p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia

• 主要な著者: Hye Won Park (著者), Byung Ok Kwak (著者), Gu-Hwan Kim (著者), Han-Wook Yoo (著者), Sochung Chung (著者)
• フォーマット: 図書
• 出版事項: Korean Society of Pediatric Endocrinology, 2013-03-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia which is caused by mutations in the steroidogenic acute regulatory protein (StAR). The mutations in StAR gene resulted in failure of the transport cholesterol into mitochondria for steroidogenesis...