Open AccessHeterozygous Mutation in the Cholesterol Side Chain Cleavage Enzyme (P450scc) Gene in a Patient with 46,XY Sex Reversal and Adrenal Insufficiency
Author(s) -
Toshihiro Tajima
Publication year - 2001
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.86.8.3820
Subject(s) - cholesterol side chain cleavage enzyme , adrenodoxin , steroidogenic acute regulatory protein , pregnenolone , endocrinology , biology , medicine , congenital adrenal hyperplasia , mutation , adrenal insufficiency , cerebrotendinous xanthomatosis , cholesterol , hormone , cytochrome p450 , gene , biochemistry , steroid , gene expression , metabolism
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