| Literature DB >> 7892608 |
D Lin1, T Sugawara, J F Strauss, B J Clark, D M Stocco, P Saenger, A Rogol, W L Miller.
Abstract
Congenital lipoid adrenal hyperplasia is an autosomal recessive disorder that is characterized by impaired synthesis of all adrenal and gonadal steroid hormones. In three unrelated individuals with this disorder, steroidogenic acute regulatory protein, which enhances the mitochondrial conversion of cholesterol into pregnenolone, was mutated and nonfunctional, providing genetic evidence that this protein is indispensable normal adrenal and gonadal steroidogenesis.Entities:
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Year: 1995 PMID: 7892608 DOI: 10.1126/science.7892608
Source DB: PubMed Journal: Science ISSN: 0036-8075 Impact factor: 47.728