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

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...

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Bibliographic Details
Main Authors: Hye Won Park (Author), Byung Ok Kwak (Author), Gu-Hwan Kim (Author), Han-Wook Yoo (Author), Sochung Chung (Author)
Format: Book
Published: Korean Society of Pediatric Endocrinology, 2013-03-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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