Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, caused by defects in the steroidogenic acute regulatory protein (STAR). The STAR p.Q258* mutation is the most common mutation in China, Japan and Korea, suggesting a founder effect. This study aim...

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Bibliografiske detaljer
Udgivet i:Mol Med
Main Authors: Kang, Eungu, Kim, Yoon-Myung, Kim, Gu-Hwan, Lee, Beom Hee, Yoo, Han-Wook, Choi, Jin-Ho
Format: Artigo
Sprog:Inglês
Udgivet: Feinstein Institute for Medical Research 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5522967/
https://ncbi.nlm.nih.gov/pubmed/28467518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2017.00023
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