Mutation Spectrum of STAR and a Founder Effect of the p.Q258 in Korean Patients with Congenital Lipo...
Mutation Spectrum of STAR and a Founder Effect of the p.Q258 in Korean Patients with Congenital Lipoid Adrenal Hyperplasia
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Publisher
England: BioMed Central
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Language
English
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Publisher
England: BioMed Central
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Contents
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
p.Q258* mutation is the most common mutation in China, Japan, and Korea, suggesting a founder effect. This study aimed to investigate the phenotypic and mutation spect...
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Full title
Mutation Spectrum of STAR and a Founder Effect of the p.Q258 in Korean Patients with Congenital Lipoid Adrenal Hyperplasia
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TN_cdi_doaj_primary_oai_doaj_org_article_9f813e27008f4347b8043cfcdda9b241
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9f813e27008f4347b8043cfcdda9b241
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ISSN
1076-1551
E-ISSN
1528-3658
DOI
10.2119/molmed.2017.00023
