[1]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT MET-470.
PubMed=2475911 [NCBI, ExPASy, EBI, Israel, Japan]
Riordan J.R.,
Rommens J.M.,
Kerem B.,
Alon N.,
Rozmahel R.,
Grzelczak Z.,
Zielenski J.,
Lok S.,
Plavsic N.,
Chou J.-L.,
Drumm M.L.,
Iannuzzi M.C.,
Collins F.S.,
Tsui L.-C.;
"Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.";
Science 245:1066-1073(1989).
|
[2]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT MET-470.
DOI=10.1016/0888-7543(91)90503-7; PubMed=1710598 [NCBI, ExPASy, EBI, Israel, Japan]
Zielenski J.,
Rozmahel R.,
Bozon D.,
Kerem B.,
Grzelczak Z.,
Riordan J.R.,
Rommens J.,
Tsui L.-C.;
"Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.";
Genomics 10:214-228(1991).
|
[3]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT MET-470.
Stacy R.,
Subramanian S.,
Deodato C.,
Burkhardt P.,
Song Y.,
Paddock M.,
Chang J.,
Zhou Y.,
Haugen E.,
Waring D.,
Chapman P.,
Hayden H.,
Levy R.,
Wu Z.,
Rouse G.,
James R.,
Phelps K.,
Olson M.V.,
Kaul R.;
Submitted (JAN-2006) to the EMBL/GenBank/DDBJ databases.
|
[4]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature01782; PubMed=12853948 [NCBI, ExPASy, EBI, Israel, Japan]
Hillier L.W.,
Fulton R.S.,
Fulton L.A.,
Graves T.A.,
Pepin K.H.,
Wagner-McPherson C.,
Layman D.,
Maas J.,
Jaeger S.,
Walker R.,
Wylie K.,
Sekhon M.,
Becker M.C.,
O'Laughlin M.D.,
Schaller M.E.,
Fewell G.A.,
Delehaunty K.D.,
Miner T.L.,
Nash W.E., ![]()
Cordes M.,
Du H.,
Sun H.,
Edwards J.,
Bradshaw-Cordum H.,
Ali J.,
Andrews S.,
Isak A.,
Vanbrunt A.,
Nguyen C.,
Du F.,
Lamar B.,
Courtney L.,
Kalicki J.,
Ozersky P.,
Bielicki L.,
Scott K.,
Holmes A.,
Harkins R.,
Harris A.,
Strong C.M.,
Hou S.,
Tomlinson C.,
Dauphin-Kohlberg S.,
Kozlowicz-Reilly A.,
Leonard S.,
Rohlfing T.,
Rock S.M.,
Tin-Wollam A.-M.,
Abbott A.,
Minx P.,
Maupin R.,
Strowmatt C.,
Latreille P.,
Miller N.,
Johnson D.,
Murray J.,
Woessner J.P.,
Wendl M.C.,
Yang S.-P.,
Schultz B.R.,
Wallis J.W.,
Spieth J.,
Bieri T.A.,
Nelson J.O.,
Berkowicz N.,
Wohldmann P.E.,
Cook L.L.,
Hickenbotham M.T.,
Eldred J.,
Williams D.,
Bedell J.A.,
Mardis E.R.,
Clifton S.W.,
Chissoe S.L.,
Marra M.A.,
Raymond C.,
Haugen E.,
Gillett W.,
Zhou Y.,
James R.,
Phelps K.,
Iadanoto S.,
Bubb K.,
Simms E.,
Levy R.,
Clendenning J.,
Kaul R.,
Kent W.J.,
Furey T.S.,
Baertsch R.A.,
Brent M.R.,
Keibler E.,
Flicek P.,
Bork P.,
Suyama M.,
Bailey J.A.,
Portnoy M.E.,
Torrents D.,
Chinwalla A.T.,
Gish W.R.,
Eddy S.R.,
McPherson J.D.,
Olson M.V.,
Eichler E.E.,
Green E.D.,
Waterston R.H.,
Wilson R.K.;
"The DNA sequence of human chromosome 7.";
Nature 424:157-164(2003).
|
[5]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1126/science.1083423; PubMed=12690205 [NCBI, ExPASy, EBI, Israel, Japan]
Scherer S.W.,
Cheung J.,
MacDonald J.R.,
Osborne L.R.,
Nakabayashi K.,
Herbrick J.-A.,
Carson A.R.,
Parker-Katiraee L.,
Skaug J.,
Khaja R.,
Zhang J.,
Hudek A.K.,
Li M.,
Haddad M.,
Duggan G.E.,
Fernandez B.A.,
Kanematsu E.,
Gentles S.,
Christopoulos C.C., ![]()
Choufani S.,
Kwasnicka D.,
Zheng X.H.,
Lai Z.,
Nusskern D.R.,
Zhang Q.,
Gu Z.,
Lu F.,
Zeesman S.,
Nowaczyk M.J.,
Teshima I.,
Chitayat D.,
Shuman C.,
Weksberg R.,
Zackai E.H.,
Grebe T.A.,
Cox S.R.,
Kirkpatrick S.J.,
Rahman N.,
Friedman J.M.,
Heng H.H.Q.,
Pelicci P.G.,
Lo-Coco F.,
Belloni E.,
Shaffer L.G.,
Pober B.,
Morton C.C.,
Gusella J.F.,
Bruns G.A.P.,
Korf B.R.,
Quade B.J.,
Ligon A.H.,
Ferguson H.,
Higgins A.W.,
Leach N.T.,
Herrick S.R.,
Lemyre E.,
Farra C.G.,
Kim H.-G.,
Summers A.M.,
Gripp K.W.,
Roberts W.,
Szatmari P.,
Winsor E.J.T.,
Grzeschik K.-H.,
Teebi A.,
Minassian B.A.,
Kere J.,
Armengol L.,
Pujana M.A.,
Estivill X.,
Wilson M.D.,
Koop B.F.,
Tosi S.,
Moore G.E.,
Boright A.P.,
Zlotorynski E.,
Kerem B.,
Kroisel P.M.,
Petek E.,
Oscier D.G.,
Mould S.J.,
Doehner H.,
Doehner K.,
Rommens J.M.,
Vincent J.B.,
Venter J.C.,
Li P.W.,
Mural R.J.,
Adams M.D.,
Tsui L.-C.;
"Human chromosome 7: DNA sequence and biology.";
Science 300:767-772(2003).
|
[6]
|
PHOSPHORYLATION AT SER-660; SER-686; SER-700; SER-737; SER-768; SER-790; SER-795 AND SER-813.
PubMed=1377674 [NCBI, ExPASy, EBI, Israel, Japan]
Picciotto M.R.,
Cohn J.A.,
Bertuzzi G.,
Greenguard P.,
Nairn A.C.;
"Phosphorylation of the cystic fibrosis transmembrane conductance regulator.";
J. Biol. Chem. 267:12742-12752(1992).
|
[7]
|
GLYCOSYLATION AT ASN-894 AND ASN-900, AND TOPOLOGY.
PubMed=7518437 [NCBI, ExPASy, EBI, Israel, Japan]
Chang X.-B.,
Hou Y.-X.,
Jensen T.J.,
Riordan J.R.;
"Mapping of cystic fibrosis transmembrane conductance regulator membrane topology by glycosylation site insertion.";
J. Biol. Chem. 269:18572-18575(1994).
|
[8]
|
PHOSPHORYLATION AT SER-660; SER-700; SER-712; SER-737; SER-753; SER-768; SER-795 AND SER-813.
PubMed=9385646 [NCBI, ExPASy, EBI, Israel, Japan]
Neville D.C.A.,
Rozanas C.R.,
Rice E.M.,
Gruis D.B.,
Verkman A.S.,
Townsend R.R.;
"Evidence for phosphorylation of serine 753 in CFTR using a novel metal-ion affinity resin and matrix-assisted laser desorption mass spectrometry.";
Protein Sci. 6:2436-2445(1997).
|
[9]
|
ALTERNATIVE SPLICING (ISOFORM 2).
DOI=10.1074/jbc.M910165199; PubMed=10766763 [NCBI, ExPASy, EBI, Israel, Japan]
Pagani F.,
Buratti E.,
Stuani C.,
Romano M.,
Zuccato E.,
Niksic M.,
Giglio L.,
Faraguna D.,
Baralle F.E.;
"Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element.";
J. Biol. Chem. 275:21041-21047(2000).
|
[10]
|
INTERACTION WITH GOPC.
DOI=10.1074/jbc.M110177200; PubMed=11707463 [NCBI, ExPASy, EBI, Israel, Japan]
Cheng J.,
Moyer B.D.,
Milewski M.,
Loffing J.,
Ikeda M.,
Mickle J.E.,
Cutting G.R.,
Li M.,
Stanton B.A.,
Guggino W.B.;
"A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression.";
J. Biol. Chem. 277:3520-3529(2002).
|
[11]
|
INTERACTION WITH SC4A7 AND SLC9A3R1.
DOI=10.1074/jbc.M201862200; PubMed=12403779 [NCBI, ExPASy, EBI, Israel, Japan]
Park M.,
Ko S.B.H.,
Choi J.Y.,
Muallem G.,
Thomas P.J.,
Pushkin A.,
Lee M.-S.,
Kim J.Y.,
Lee M.G.,
Muallem S.,
Kurtz I.;
"The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3-cotransport isoform 3.";
J. Biol. Chem. 277:50503-50509(2002).
|
[12]
|
INTERACTION WITH MYO6.
DOI=10.1074/jbc.M403141200; PubMed=15247260 [NCBI, ExPASy, EBI, Israel, Japan]
Swiatecka-Urban A.,
Boyd C.,
Coutermarsh B.,
Karlson K.H.,
Barnaby R.,
Aschenbrenner L.,
Langford G.M.,
Hasson T.,
Stanton B.A.;
"Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator.";
J. Biol. Chem. 279:38025-38031(2004).
|
[13]
|
REVIEW.
PubMed=1378801 [NCBI, ExPASy, EBI, Israel, Japan]
McIntosh I.,
Cutting G.R.;
"Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis.";
FASEB J. 6:2775-2782(1992).
|
[14]
|
ALTERNATIVE SPLICING (ISOFORM 3).
DOI=10.1093/hmg/ddg215; PubMed=12913074 [NCBI, ExPASy, EBI, Israel, Japan]
Aznarez I.,
Chan E.M.,
Zielenski J.,
Blencowe B.J.,
Tsui L.-C.;
"Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.";
Hum. Mol. Genet. 12:2031-2040(2003).
|
[15]
|
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-515, AND MASS SPECTROMETRY.
DOI=10.1038/sj.emboj.7601384; PubMed=17053785 [NCBI, ExPASy, EBI, Israel, Japan]
Wang Y.,
Du D.,
Fang L.,
Yang G.,
Zhang C.,
Zeng R.,
Ullrich A.,
Lottspeich F.,
Chen Z.;
"Tyrosine phosphorylated Par3 regulates epithelial tight junction assembly promoted by EGFR signaling.";
EMBO J. 25:5058-5070(2006).
|
[16]
|
3D-STRUCTURE MODELING OF 425-638.
DOI=10.1002/(SICI)1097-0134(19980215)30:3<275::AID-PROT7>3.3.CO;2-L; PubMed=9517543 [NCBI, ExPASy, EBI, Israel, Japan]
Hoedemaeker F.J.,
Davidson A.R.,
Rose D.R.;
"A model for the nucleotide-binding domains of ABC transporters based on the large domain of aspartate aminotransferase.";
Proteins 30:275-286(1998).
|
[17]
|
X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 1476-1480 IN COMPLEX WITH SLC9A3R1.
DOI=10.1074/jbc.C100154200; PubMed=11304524 [NCBI, ExPASy, EBI, Israel, Japan]
Karthikeyan S.,
Leung T.,
Ladias J.A.A.;
"Structural basis of the Na+/H+ exchanger regulatory factor PDZ1 interaction with the carboxyl-terminal region of the cystic fibrosis transmembrane conductance regulator.";
J. Biol. Chem. 276:19683-19686(2001).
|
[18]
|
REVIEW ON VARIANTS.
PubMed=1284534 [NCBI, ExPASy, EBI, Israel, Japan]
Tsui L.-C.;
"Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.";
Hum. Mutat. 1:197-203(1992).
|
[19]
|
VARIANTS CF.
DOI=10.1038/346366a0; PubMed=1695717 [NCBI, ExPASy, EBI, Israel, Japan]
Cutting G.R.,
Kasch L.M.,
Rosenstein B.J.,
Zielenski J.,
Tsui L.-C.,
Antonarakis S.E.,
Kazazian H.H. Jr.;
"A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.";
Nature 346:366-369(1990).
|
[20]
|
VARIANTS CF.
PubMed=2236053 [NCBI, ExPASy, EBI, Israel, Japan]
Kerem B.-S.,
Zielenski J.,
Markiewicz D.,
Bozon D.,
Gazit E.,
Yahav J.,
Kennedy D.,
Riordan J.R.,
Collins F.S.,
Rommens J.M.,
Tsui L.-C.;
"Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.";
Proc. Natl. Acad. Sci. U.S.A. 87:8447-8451(1990).
|
[21]
|
VARIANTS CF.
DOI=10.1016/0888-7543(91)90510-L; PubMed=1710600 [NCBI, ExPASy, EBI, Israel, Japan]
White M.B.,
Krueger L.J.,
Holsclaw D.S. Jr.,
Gerrard B.C.,
Stewart C.,
Quittell L.,
Dolganov G.,
Baranov V.,
Ivaschenko T.,
Kapronov N.I.,
Sebastio G.,
Castiglione O.,
Dean M.;
"Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).";
Genomics 10:266-269(1991).
|
[22]
|
VARIANTS CF PHE-520 AND HIS-1291.
DOI=10.1093/hmg/1.1.11; PubMed=1284466 [NCBI, ExPASy, EBI, Israel, Japan]
Jones C.T.,
McIntosh I.,
Keston M.,
Ferguson A.,
Brock D.J.H.;
"Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.";
Hum. Mol. Genet. 1:11-17(1992).
|
[23]
|
VARIANT CF MET-1283.
DOI=10.1093/hmg/1.2.123; PubMed=1284468 [NCBI, ExPASy, EBI, Israel, Japan]
Cheadle J.P.,
Meredith A.L.,
Al-Jader L.N.;
"A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.";
Hum. Mol. Genet. 1:123-125(1992).
|
[24]
|
VARIANT CF PRO-1255.
DOI=10.1093/hmg/1.6.441; PubMed=1284530 [NCBI, ExPASy, EBI, Israel, Japan]
Lissens W.,
Bonduelle M.,
Malfroot A.,
Dab I.,
Liebaers I.;
"A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.";
Hum. Mol. Genet. 1:441-442(1992).
|
[25]
|
VARIANTS CF LYS-92 AND CYS-117.
DOI=10.1093/hmg/1.6.439; PubMed=1284529 [NCBI, ExPASy, EBI, Israel, Japan]
Shackleton S.,
Beards F.,
Harris A.;
"Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.";
Hum. Mol. Genet. 1:439-440(1992).
|
[26]
|
VARIANT CF LYS-1101.
PubMed=7680525 [NCBI, ExPASy, EBI, Israel, Japan]
Zielenski J.,
Fugiwara T.M.,
Markiewicz D.,
Paradis A.J.,
Anacleto A.I.,
Richards B.,
Schwartz R.H.,
Klinger K.W.,
Tsui L.-C.,
Morgan K.;
"Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.";
Am. J. Hum. Genet. 52:609-615(1993).
|
[27]
|
VARIANTS CF VAL-1052; ARG-1061; LEU-1066; GLN-1070; ARG-1085 AND ARG-1101.
DOI=10.1006/geno.1993.1183; PubMed=7683628 [NCBI, ExPASy, EBI, Israel, Japan]
Mercier B.,
Lissens W.,
Novelli G.,
Kalaydjieva L.,
De Arce M.,
Kapranov N.,
Klain N.C.,
Lenoir G.,
Chauveau P.,
Lenaerts C.,
Rault G.,
Cashman S.,
Sangiuolo F.,
Audrezet M.-P.,
Dallapiccola B.,
Guillermit H.,
Bonduelle M.,
Liebaers I.,
Quere I., ![]()
Verlingue C.,
Ferec C.;
"Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.";
Genomics 16:296-297(1993).
|
[28]
|
VARIANT CF LYS-92.
DOI=10.1093/hmg/2.1.79; PubMed=7683954 [NCBI, ExPASy, EBI, Israel, Japan]
Nunes V.,
Chillon M.,
Doerk T.,
Tuemmler B.,
Casals T.,
Estivill X.;
"A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.";
Hum. Mol. Genet. 2:79-80(1993).
|
[29]
|
VARIANT CF SER-205.
DOI=10.1093/hmg/2.10.1741; PubMed=7505694 [NCBI, ExPASy, EBI, Israel, Japan]
Chillon M.,
Casals T.,
Nunes V.,
Gimenez J.,
Ruiz E.P.,
Estivill X.;
"Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.";
Hum. Mol. Genet. 2:1741-1742(1993).
|
[30]
|
VARIANTS CF.
PubMed=7504969 [NCBI, ExPASy, EBI, Israel, Japan]
Gasparini P.,
Marigo C.,
Bisceglia G.,
Nicolis E.,
Zelante L.,
Bombieri C.,
Borgo G.,
Pignatti P.F.,
Cabrini G.;
"Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.";
Hum. Mutat. 2:389-394(1993).
|
[31]
|
VARIANTS CYS-31 AND ILE-1220, AND VARIANTS CF LEU-912; TYR-949; PRO-1065 AND PRO-1071.
DOI=10.1006/geno.1994.1290; PubMed=7522211 [NCBI, ExPASy, EBI, Israel, Japan]
Ghaneb N.,
Costes B.,
Girodon E.,
Martin J.,
Fanen P.,
Goossens M.;
"Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.";
Genomics 21:434-436(1994).
|
[32]
|
VARIANT CF PRO-346.
DOI=10.1007/BF00202817; PubMed=7513296 [NCBI, ExPASy, EBI, Israel, Japan]
Boteva K.,
Papageorgiou E.,
Georgiou C.,
Angastiniotis M.,
Middleton L.T.,
Constantinou-Deltas C.D.;
"Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.";
Hum. Genet. 93:529-532(1994).
|
[33]
|
VARIANTS CF TYR-199; SER-619; ARG-1005 AND ARG-1291.
DOI=10.1007/BF00211022; PubMed=7525450 [NCBI, ExPASy, EBI, Israel, Japan]
Doerk T.,
Mekus F.,
Schmidt K.,
Bosshammer J.,
Fislage R.,
Heuer T.,
Dziadek V.,
Neumann T.,
Kaelin N.,
Wulbrand U.,
Wulf B.,
von der Hardt H.,
Maass G.,
Tuemmler B.;
"Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.";
Hum. Genet. 94:533-542(1994).
|
[34]
|
VARIANT CF GLU-1249.
PubMed=7520022 [NCBI, ExPASy, EBI, Israel, Japan]
Greil I.,
Wagner K.,
Rosenkranz W.;
"A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.";
Hum. Hered. 44:238-240(1994).
|
[35]
|
VARIANT CF GLU-1397.
DOI=10.1093/hmg/3.6.999; PubMed=7524913 [NCBI, ExPASy, EBI, Israel, Japan]
Petreska L.,
Koceva S.,
Gordova-Muratovska A.,
Nestorov R.,
Efremov G.D.;
"Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin.";
Hum. Mol. Genet. 3:999-1000(1994).
|
[36]
|
VARIANT CF CYS-109.
DOI=10.1093/hmg/3.6.1001; PubMed=7524909 [NCBI, ExPASy, EBI, Israel, Japan]
Schaedel C.,
Kristoffersson A.-C.,
Kornfaelt R.,
Holmberg L.;
"A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.";
Hum. Mol. Genet. 3:1001-1002(1994).
|
[37]
|
VARIANT CF THR-120.
PubMed=7517264 [NCBI, ExPASy, EBI, Israel, Japan]
Chillon M.,
Casals T.,
Gimenez J.,
Nunes V.,
Estivill X.;
"Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).";
Hum. Mutat. 3:223-230(1994).
|
[38]
|
VARIANT CF LEU-87.
PubMed=8081395 [NCBI, ExPASy, EBI, Israel, Japan]
Bienvenu T.,
Petitpretz P.,
Beldjord C.,
Kaplan J.C.;
"A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene.";
Hum. Mutat. 3:395-396(1994).
|
[39]
|
VARIANTS CBAVD ARG-149; LYS-193; GLY-258 AND GLY-800.
PubMed=7529962 [NCBI, ExPASy, EBI, Israel, Japan]
Mercier B.,
Verlingue C.,
Lissens W.,
Silber S.J.,
Novelli G.,
Bonduelle M.,
Audrezet M.-P.,
Ferec C.;
"Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.";
Am. J. Hum. Genet. 56:272-277(1995).
|
[40]
|
VARIANTS CBAVD.
PubMed=7539342 [NCBI, ExPASy, EBI, Israel, Japan]
Jezequel P.,
Dorval I.,
Fergelot P.,
Chauvel B.,
Le Treut A.,
Le Gall J.-Y.,
Le Lannou D.,
Blayau M.;
"Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.";
Clin. Chem. 41:833-835(1995).
|
[41]
|
VARIANTS CF GLY-57; LYS-193 AND GLY-579.
DOI=10.1007/BF00210414; PubMed=7544319 [NCBI, ExPASy, EBI, Israel, Japan]
Brancolini V.,
Cremonesi L.,
Belloni E.,
Pappalardo E.,
Bordoni R.,
Seia M.,
Russo S.,
Padoan R.,
Giunta A.,
Ferrari M.;
"Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.";
Hum. Genet. 96:312-318(1995).
|
[42]
|
VARIANT CF TRP-206.
DOI=10.1007/BF00210305; PubMed=8522333 [NCBI, ExPASy, EBI, Israel, Japan]
Desgeorges M.,
Rodier M.,
Piot M.,
Demaille J.,
Claustres M.;
"Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.";
Hum. Genet. 96:717-720(1995).
|
[43]
|
VARIANTS CF LEU-31 AND ARG-1098.
PubMed=7537150 [NCBI, ExPASy, EBI, Israel, Japan]
Zielenski J.,
Markiewicz D.,
Chen H.S.,
Schappert K.T.,
Seller A.,
Durie P.,
Corey M.,
Tsui L.-C.;
"Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.";
Hum. Mutat. 5:43-47(1995).
|
[44]
|
VARIANT CF ASN-572.
PubMed=7541273 [NCBI, ExPASy, EBI, Israel, Japan]
Verlingue C.,
Kapranov N.I.,
Mercier B.,
Ginter E.K.,
Petrova N.V.,
Audrezet M.P.,
Ferec C.;
"Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.";
Hum. Mutat. 5:205-209(1995).
|
[45]
|
VARIANT CF ARG-98.
PubMed=7581407 [NCBI, ExPASy, EBI, Israel, Japan]
Romey M.-C.,
Desgeorges M.,
Ray P.,
Godard P.,
Demaille J.,
Claustres M.;
"Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.";
Hum. Mutat. 6:190-191(1995).
|
[46]
|
VARIANT CF ILE-338.
DOI=10.1016/S0022-3476(95)70310-1; PubMed=7543567 [NCBI, ExPASy, EBI, Israel, Japan]
Leoni G.B.,
Pitzalis S.,
Podda R.,
Zanda M.,
Silvetti M.,
Caocci L.,
Cao A.,
Rosatelli M.C.;
"A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration.";
J. Pediatr. 127:281-283(1995).
|
[47]
|
VARIANTS CF PHE-42; LEU-117; ARG-139 AND GLU-1006.
DOI=10.1016/S0890-8508(95)80038-7; PubMed=7541510 [NCBI, ExPASy, EBI, Israel, Japan]
Ferec C.,
Novelli G.,
Verlingue C.,
Quere I.,
Dallapiccola B.,
Audrezet M.P.,
Mercier B.;
"Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.";
Mol. Cell. Probes 9:135-137(1995).
|
[48]
|
VARIANT CF SER-665.
PubMed=8800923 [NCBI, ExPASy, EBI, Israel, Japan]
Messaoud T.,
Verlingue C.,
Denamur E.,
Pascaud O.,
Quere I.,
Fattoum S.,
Elion J.,
Ferec C.;
"Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.";
Eur. J. Hum. Genet. 4:20-24(1996).
|
[49]
|
VARIANT CF ARG-314.
DOI=10.1002/(SICI)1098-1004(1996)7:2<151::AID-HUMU10>3.3.CO;2-U; PubMed=8829633 [NCBI, ExPASy, EBI, Israel, Japan]
Nasr S.Z.,
Strong T.V.,
Mansoura M.K.,
Dawson D.C.,
Collins F.S.;
"Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.";
Hum. Mutat. 7:151-154(1996).
|
[50]
|
VARIANT CF CYS-569.
DOI=10.1002/(SICI)1098-1004(1996)7:4<375::AID-HUMU17>3.3.CO;2-K; PubMed=8723693 [NCBI, ExPASy, EBI, Israel, Japan]
Petreska L.,
Plaseska D.,
Koseva S.,
Stavljenic-Rukavina A.,
Efremov G.D.;
"A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.";
Hum. Mutat. 7:374-375(1996).
|
[51]
|
VARIANT CF ARG-1061.
DOI=10.1002/(SICI)1098-1004(1996)7:4<376::AID-HUMU18>3.3.CO;2-E; PubMed=8723695 [NCBI, ExPASy, EBI, Israel, Japan]
Bienvenu T.,
Chertkoff L.,
Beldjord C.,
Segal E.,
Carniglia L.,
Barreiro C.,
Kaplan J.-C.;
"Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.";
Hum. Mutat. 7:376-377(1996).
|
[52]
|
VARIANT CF LEU-562.
DOI=10.1002/(SICI)1098-1004(1996)8:4<340::AID-HUMU7>3.3.CO;2-K; PubMed=8956039 [NCBI, ExPASy, EBI, Israel, Japan]
Hughes D.J.,
Hill A.J.M.,
Macek M. Jr.,
Redmond A.O.,
Nevin N.C.,
Graham C.A.;
"Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.";
Hum. Mutat. 8:340-347(1996).
|
[53]
|
VARIANT CBAVD TYR-50.
DOI=10.1002/(SICI)1098-1004(1997)9:2<183::AID-HUMU13>3.3.CO;2-3; PubMed=9067761 [NCBI, ExPASy, EBI, Israel, Japan]
Zielenski J.,
Patrizio P.,
Markiewicz D.,
Asch R.H.,
Tsui L.-C.;
"Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).";
Hum. Mutat. 9:183-184(1997).
|
[54]
|
VARIANT CF MET-1140 DEL.
DOI=10.1002/(SICI)1098-1004(1997)9:4<368::AID-HUMU13>3.3.CO;2-F; PubMed=9101301 [NCBI, ExPASy, EBI, Israel, Japan]
Clavel C.,
Pennaforte F.,
Pigeon F.,
Verlingue C.,
Birembaut P.,
Ferec C.;
"Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.";
Hum. Mutat. 9:368-369(1997).
|
[55]
|
VARIANT CF ASP-141.
DOI=10.1002/(SICI)1098-1004(1997)10:1<86::AID-HUMU15>3.3.CO;2-O; PubMed=9222768 [NCBI, ExPASy, EBI, Israel, Japan]
Gouya L.,
Pascaud O.,
Munck A.,
Elion J.,
Denamur E.;
"Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.";
Hum. Mutat. 10:86-87(1997).
|
[56]
|
VARIANT CF CYS-1066.
DOI=10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.3.CO;2-V; PubMed=9375855 [NCBI, ExPASy, EBI, Israel, Japan]
Casals T.,
Pacheco P.,
Barreto C.,
Gimenez J.,
Ramos M.D.,
Pereira S.,
Pinheiro J.A.,
Cobos N.,
Curvelo A.,
Vazquez C.,
Rocha H.,
Seculi J.L.,
Perez E.,
Dapena J.,
Carrilho E.,
Duarte A.,
Palacio A.M.,
Nunes V.,
Lavinha J.,
Estivill X.;
"Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.";
Hum. Mutat. 10:387-392(1997).
|
[57]
|
VARIANTS CF GLU-85; HIS-117; TYR-287; GLU-455; ASP-551; PRO-1070 AND LYS-1303.
DOI=10.1002/(SICI)1098-1004(1997)10:6<436::AID-HUMU4>3.3.CO;2-N; PubMed=9401006 [NCBI, ExPASy, EBI, Israel, Japan]
Shrimpton A.E.,
Borowitz D.,
Swender P.;
"Cystic fibrosis mutation frequencies in upstate New York.";
Hum. Mutat. 10:436-442(1997).
|
[58]
|
VARIANT CF PHE-311 DEL.
DOI=10.1086/301681; PubMed=9443874 [NCBI, ExPASy, EBI, Israel, Japan]
Friedman K.J.,
Leigh M.W.,
Czarnecki P.,
Feldman G.L.;
"Cystic fibrosis transmembrane-conductance regulator mutations among African Americans.";
Am. J. Hum. Genet. 62:195-196(1998).
|
[59]
|
VARIANTS CF LEU-1013 AND ILE-1028.
DOI=10.1007/s004390050683; PubMed=9521595 [NCBI, ExPASy, EBI, Israel, Japan]
Onay T.,
Topaloglu O.,
Zielenski J.,
Gokgoz N.,
Kayserili H.,
Camcioglu Y.,
Cokugras H.,
Akcakaya N.,
Apak M.,
Tsui L.-C.,
Kirdar B.;
"Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).";
Hum. Genet. 102:224-230(1998).
|
[60]
|
VARIANTS CF.
DOI=10.1007/s004390050897; PubMed=9921909 [NCBI, ExPASy, EBI, Israel, Japan]
Bombieri C.,
Benetazzo M.,
Saccomani A.,
Belpinati F.,
Gile L.S.,
Luisetti M.,
Pignatti P.F.;
"Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.";
Hum. Genet. 103:718-722(1998).
|
[61]
|
VARIANTS CF.
DOI=10.1093/hmg/7.11.1761; PubMed=9736778 [NCBI, ExPASy, EBI, Israel, Japan]
Vankeerberghen A.,
Wei L.,
Jaspers M.,
Cassiman J.-J.,
Nilius B.,
Cuppens H.;
"Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.";
Hum. Mol. Genet. 7:1761-1769(1998).
|
[62]
|
VARIANTS CF SER-560 AND ASP-569.
DOI=10.1002/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.3.CO;2-C; PubMed=9482579 [NCBI, ExPASy, EBI, Israel, Japan]
Malone G.,
Haworth A.,
Schwarz M.J.,
Cuppens H.,
Super M.;
"Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).";
Hum. Mutat. 11:152-157(1998).
|
[63]
|
VARIANTS CF PHE-13 AND ILE-338.
PubMed=9554753 [NCBI, ExPASy, EBI, Israel, Japan]
Leoni G.B.,
Pitzalis S.,
Tonelli R.,
Cao A.;
"Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.";
Hum. Mutat. 11:337-337(1998).
|
[64]
|
VARIANTS CF PRO-117 AND ASP-192 DEL.
PubMed=9452048 [NCBI, ExPASy, EBI, Israel, Japan]
Feldmann D.,
Sardet A.,
Cougoureux E.,
Plouvier E.,
Fontaine J.-L.,
Tournier G.,
Aymard P.;
"Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121+1G-->A in four French patients.";
Hum. Mutat. Suppl. 1:S78-S80(1998).
|
[65]
|
VARIANT CF ARG-1065.
PubMed=9452054 [NCBI, ExPASy, EBI, Israel, Japan]
Casals T.,
Ramos M.D.,
Gimenez J.,
Nadal M.,
Nunes V.,
Estivill X.;
"Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.";
Hum. Mutat. Suppl. 1:S99-S102(1998).
|
[66]
|
VARIANT CF ASN-LYS-370 INS.
PubMed=9452073 [NCBI, ExPASy, EBI, Israel, Japan]
Shackleton S.,
Harris A.;
"A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.";
Hum. Mutat. Suppl. 1:S156-S157(1998).
|
[67]
|
VARIANT CBAVD GLY-513, AND VARIANT MET-470.
PubMed=10651488 [NCBI, ExPASy, EBI, Israel, Japan]
Bienvenu T.,
Bousquet S.,
Vidaud D.,
Hubert D.,
Francoual C.,
Beldjord C.,
Kaplan J.-C.;
"A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient.";
Hum. Mutat. 12:213-214(1998).
|
[68]
|
VARIANTS CBAVD LEU-111; LYS-244; VAL-544 AND VAL-1364.
de Meeus A.,
Guittard C.,
Desgeorges M.,
Carles S.,
Demaille J.,
Claustres M.;
"Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations.";
Hum. Mutat. 12:480-480(1998).
|
[69]
|
VARIANT CF GLY-579.
DOI=10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO;2-3; PubMed=10094564 [NCBI, ExPASy, EBI, Israel, Japan]
Picci L.,
Cameran M.,
Olante P.,
Zacchello F.,
Scarpa M.;
"Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement.";
Hum. Mutat. 13:173-173(1999).
|
|
ExPASy Home page