Article
[Molecular genetic analysis of congenital lipoid adrenal hyperplasia].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Aug 2004
Qiu Wen-Juan, Ye Jun, Han Bei, Han Lian-Shu, Gu Xue-Fan
Abstract excerpt
OBJECTIVE: Congenital lipoid adrenal hyperplasia (CLAH) is an autosomal recessive inherited disorder, characterized by deficiency of adrenal and gonadal steroid hormones. Recent studies have shown that mutations in the gene for steroidogenic acute regulatory protein (StAR) cause this most severe genetic disorder in steroid hormone biosynthesis. StAR is a mitochondrial protein promotes cholesterol transfer from...
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