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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Gepubliceerd in:Mol Med
Hoofdauteurs: Kang, Eungu, Kim, Yoon-Myung, Kim, Gu-Hwan, Lee, Beom Hee, Yoo, Han-Wook, Choi, Jin-Ho
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Feinstein Institute for Medical Research 2017
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Research Article
Online toegang: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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