[1]
|
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT THR-51.
DOI=10.1093/nar/15.5.1921; PubMed=3031582 [NCBI, ExPASy, EBI, Israel, Japan]
Dahl H.-H.M.,
Hutchison W.,
McAdam W.,
Wake S.,
Morgan F.J.,
Cotton R.G.H.;
"Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.";
Nucleic Acids Res. 15:1921-1932(1987).
|
[2]
|
SEQUENCE REVISION TO 51.
Dahl H.-H.M.;
Submitted (JUL-1987) to the EMBL/GenBank/DDBJ databases.
|
[3]
|
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT THR-51.
PubMed=3033643 [NCBI, ExPASy, EBI, Israel, Japan]
Lockyer J.,
Cook R.G.,
Milstien S.,
Kaufman S.,
Woo S.L.C.,
Ledley F.D.;
"Structure and expression of human dihydropteridine reductase.";
Proc. Natl. Acad. Sci. U.S.A. 84:3329-3333(1987).
|
[4]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-51, AND VARIANTS PK2 ASP-23; CYS-150; TYR-158 AND ILE-THR-GLY-218 INS.
DOI=10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.3.CO;2-0; PubMed=9744478 [NCBI, ExPASy, EBI, Israel, Japan]
Dianzani I.,
de Sanctis L.,
Smooker P.M.,
Gough T.J.,
Alliaudi C.,
Brusco A.,
Spada M.,
Blau N.,
Dobos M.,
Zhang H.-P.,
Yang N.,
Ponzone A.,
Armarego W.L.F.,
Cotton R.G.H.;
"Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.";
Hum. Mutat. 12:267-273(1998).
|
[5]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Hsiao K.-J.,
Yen P.-F.,
Lin C.-H.,
Liu T.-T.,
Chiang S.-H.,
Chen C.-Y.,
Tsai S.-F.;
"The complete sequence of human dihydropteridine reductase gene containing BAC clone 395N09.";
Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases.
|
[6]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Cerebellum;
Totoki Y.,
Toyoda A.,
Takeda T.,
Sakaki Y.,
Tanaka A.,
Yokoyama S.;
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
|
[7]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
[8]
|
PROTEIN SEQUENCE OF 2-11 AND 128-138, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, AND MASS SPECTROMETRY.
TISSUE=Colon carcinoma;
Bienvenut W.V.,
Heiserich L.,
Gottlieb E.;
Submitted (MAR-2008) to UniProtKB.
|
[9]
|
X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS).
PubMed=8262916 [NCBI, ExPASy, EBI, Israel, Japan]
Su Y.,
Varughese K.I.,
Xuong N.H.,
Bray T.L.,
Roche D.J.,
Whiteley J.M.;
"The crystallographic structure of a human dihydropteridine reductase NADH binary complex expressed in Escherichia coli by a cDNA constructed from its rat homologue.";
J. Biol. Chem. 268:26836-26841(1993).
|
[10]
|
REVIEW ON VARIANTS.
PubMed=7627180 [NCBI, ExPASy, EBI, Israel, Japan]
Smooker P.M.,
Cotton R.G.H.;
"Molecular basis of dihydropteridine reductase deficiency.";
Hum. Mutat. 5:279-284(1995).
|
[11]
|
VARIANTS PK2 ASP-23 AND GLY-108.
PubMed=8326489 [NCBI, ExPASy, EBI, Israel, Japan]
Dianzani I.,
Howells D.W.,
Ponzone A.,
Saleeba J.A.,
Smooker P.M.,
Cotton R.G.H.;
"Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.";
J. Med. Genet. 30:465-469(1993).
|
[12]
|
VARIANT PK2 THR-123 INS.
PubMed=2116088 [NCBI, ExPASy, EBI, Israel, Japan]
Howells D.W.,
Forrest S.M.,
Dahl H.-H.M.,
Cotton R.G.H.;
"Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.";
Am. J. Hum. Genet. 47:279-285(1990).
|
[13]
|
VARIANTS PK2 PRO-14 AND VAL-17.
DOI=10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU13>3.0.CO;2-F; PubMed=10408783 [NCBI, ExPASy, EBI, Israel, Japan]
Smooker P.M.,
Gough T.J.,
Cotton R.G.H.,
Alliaudi C.,
de Sanctis L.,
Dianzani I.;
"A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects.";
Hum. Mutat. 13:503-504(1999).
|
[14]
|
VARIANTS PK2 ARG-17; ASP-18; ASP-23; ARG-66; ARG-149 AND CYS-150.
DOI=10.1007/s004390000407; PubMed=11153907 [NCBI, ExPASy, EBI, Israel, Japan]
Romstad A.,
Kalkanoglu H.S.,
Coskun T.,
Demirkol M.,
Tokatli A.,
Dursun A.,
Baykal T.,
Oezalp I.,
Guldberg P.,
Guettler F.;
"Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).";
Hum. Genet. 107:546-553(2000).
|
|
ExPASy Home page
YPRC Korea