[1]
|
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=2565344 [NCBI, ExPASy, EBI, Israel, Japan]
Naito E.,
Ozasa H.,
Ikeda Y.,
Tanaka K.;
"Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency.";
J. Clin. Invest. 83:1605-1613(1989).
|
[2]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1007/s003359900612; PubMed=9383286 [NCBI, ExPASy, EBI, Israel, Japan]
Corydon M.J.,
Andresen B.S.,
Bross P.,
Kjeldsen M.,
Andreasen P.H.,
Eiberg H.,
Koelvraa S.,
Gregersen N.;
"Structural organization of the human short-chain acyl-CoA dehydrogenase gene.";
Mamm. Genome 8:922-926(1997).
|
[3]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Yamagata K.,
Oda N.,
Furuta H.,
Vaxillaire M.,
Southam L.,
Boriraj V.,
Chen X.,
Oda Y.,
Takeda J.,
Yamada S.,
Nishigori H.,
Lebeau M.M.,
Lathrop M.,
Cox R.D.,
Bell G.I.;
"Transcription map of the 5cM region surrounding the hepatocyte nuclear factor-1a/MODY3 gene on chromosome 12.";
Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases.
|
[4]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Retinal pigment epithelium;
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).
|
[5]
|
PROTEIN SEQUENCE OF 25-34.
TISSUE=Liver;
PubMed=1286669 [NCBI, ExPASy, EBI, Israel, Japan]
Hochstrasser D.F.,
Frutiger S.,
Paquet N.,
Bairoch A.,
Ravier F.,
Pasquali C.,
Sanchez J.-C.,
Tissot J.-D.,
Bjellqvist B.,
Vargas R.,
Appel R.D.,
Hughes G.J.;
"Human liver protein map: a reference database established by microsequencing and gel comparison.";
Electrophoresis 13:992-1001(1992).
|
[6]
|
VARIANTS SCAD DEFICIENCY.
PubMed=1692038 [NCBI, ExPASy, EBI, Israel, Japan]
Naito E.,
Indo Y.,
Tanaka K.;
"Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.";
J. Clin. Invest. 85:1575-1582(1990).
|
[7]
|
VARIANTS SCAD DEFICIENCY CYS-92; ARG-177 AND CYS-383, AND VARIANTS TRP-171 AND SER-209.
DOI=10.1093/hmg/7.4.619; PubMed=9499414 [NCBI, ExPASy, EBI, Israel, Japan]
Gregersen N.,
Winter V.S.,
Corydon M.J.,
Corydon T.J.,
Rinaldo P.,
Ribes A.,
Martinez G.,
Bennett M.J.,
Vianey-Saban C.,
Bhala A.,
Hale D.E.,
Lehnert W.,
Kmoch S.,
Roig M.,
Riudor E.,
Eiberg H.,
Andresen B.S.,
Bross P.,
Bolund L.A.,
Koelvraa S.;
"Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.";
Hum. Mol. Genet. 7:619-627(1998).
|
[8]
|
VARIANTS SCAD DEFICIENCY SER-90; GLU-104 DEL; VAL-192; TRP-325; LEU-353 AND TRP-380, AND VARIANTS TRP-171 AND SER-209.
DOI=10.1203/00006450-200101000-00008; PubMed=11134486 [NCBI, ExPASy, EBI, Israel, Japan]
Corydon M.J.,
Vockley J.,
Rinaldo P.,
Rhead W.J.,
Kjeldsen M.,
Winter V.S.,
Riggs C.,
Babovic-Vuksanovic D.,
Smeitink J.,
De Jong J.,
Levy H.,
Sewell A.C.,
Roe C.,
Matern D.,
Dasouki M.,
Gregersen N.;
"Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.";
Pediatr. Res. 49:18-23(2001).
|
|
ExPASy Home page
YPRC Korea