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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Autores principales: Park, Hye Won, Kwak, Byung Ok, Kim, Gu-Hwan, Yoo, Han-Wook, Chung, Sochung
Formato: Artigo
Lenguaje:Inglês
Publicado: The Korean Society of Pediatric Endocrinology 2013
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4027067/
https://ncbi.nlm.nih.gov/pubmed/24904850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2013.18.1.40
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