[1]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=3024157 [NCBI, ExPASy, EBI, Israel, Japan]
Chung B.-C.,
Matteson K.J.,
Voutilainen R.,
Mohandas T.K.,
Miller W.L.;
"Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta.";
Proc. Natl. Acad. Sci. U.S.A. 83:8962-8966(1986).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Placenta;
PubMed=3038854 [NCBI, ExPASy, EBI, Israel, Japan]
Morohashi K.,
Sogawa K.,
Omura T.,
Fujii-Kuriyama Y.;
"Gene structure of human cytochrome P-450(SCC), cholesterol desmolase.";
J. Biochem. 101:879-887(1987).
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[3]
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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).
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[4]
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NUCLEOTIDE SEQUENCE OF 1-89.
Chung B.-C.;
Submitted (JAN-1989) to the EMBL/GenBank/DDBJ databases.
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[5]
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PROTEIN SEQUENCE OF 51-54, AND INDUCTION.
TISSUE=Choriocarcinoma;
PubMed=1849407 [NCBI, ExPASy, EBI, Israel, Japan]
Hu M.C.,
Guo I.C.,
Lin J.H.,
Chung B.-C.;
"Regulated expression of cytochrome P-450scc (cholesterol-side-chain cleavage enzyme) in cultured cell lines detected by antibody against bacterially expressed human protein.";
Biochem. J. 274:813-817(1991).
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[6]
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NUCLEOTIDE SEQUENCE [MRNA] OF 283-521.
PubMed=2419119 [NCBI, ExPASy, EBI, Israel, Japan]
Matteson K.J.,
Chung B.-C.,
Urdea M.S.,
Miller W.L.;
"Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes.";
Endocrinology 118:1296-1305(1986).
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[7]
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VARIANT LYS-314.
DOI=10.1038/10290; PubMed=10391209 [NCBI, ExPASy, EBI, Israel, Japan]
Cargill M.,
Altshuler D.,
Ireland J.,
Sklar P.,
Ardlie K.,
Patil N.,
Shaw N.,
Lane C.R.,
Lim E.P.,
Kalyanaraman N.,
Nemesh J.,
Ziaugra L.,
Friedland L.,
Rolfe A.,
Warrington J.,
Lipshutz R.,
Daley G.Q.,
Lander E.S.;
"Characterization of single-nucleotide polymorphisms in coding regions of human genes.";
Nat. Genet. 22:231-238(1999).
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[8]
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ERRATUM.
Cargill M.,
Altshuler D.,
Ireland J.,
Sklar P.,
Ardlie K.,
Patil N.,
Shaw N.,
Lane C.R.,
Lim E.P.,
Kalyanaraman N.,
Nemesh J.,
Ziaugra L.,
Friedland L.,
Rolfe A.,
Warrington J.,
Lipshutz R.,
Daley G.Q.,
Lander E.S.;
Nat. Genet. 23:373-373(1999).
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[9]
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VARIANT CLAH GLY-ASP-271 INS.
DOI=10.1210/jc.86.8.3820; PubMed=11502818 [NCBI, ExPASy, EBI, Israel, Japan]
Tajima T.,
Fujieda K.,
Kouda N.,
Nakae J.,
Miller W.L.;
"Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency.";
J. Clin. Endocrinol. Metab. 86:3820-3825(2001).
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[10]
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VARIANTS CAI VAL-189 AND TRP-353.
DOI=10.1210/jc.87.8.3808; PubMed=12161514 [NCBI, ExPASy, EBI, Israel, Japan]
Katsumata N.,
Ohtake M.,
Hojo T.,
Ogawa E.,
Hara T.,
Sato N.,
Tanaka T.;
"Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.";
J. Clin. Endocrinol. Metab. 87:3808-3813(2002).
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