Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency

BACKGROUND: We previously reported a patient with congenital adrenal hyperplasia (CAH) with compound heterozygous mutations in the cytochrome P450 17A1 (CYP17A1) gene. One allele had a p.His373Leu and the other a new p.Glu383fsX36 mutation. The aim of this study was to investigate the functional pro...

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Pubblicato in:Endocrinol Metab (Seoul)
Autori principali: Mo, Eun Yeong, Lee, Ji-young, Kim, Su Yeon, Kim, Min Ji, Kim, Eun Sook, Lee, Seungok, Han, Je Ho, Moon, Sung-dae
Natura: Artigo
Lingua:Inglês
Pubblicazione: Korean Endocrine Society 2018
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6145962/
https://ncbi.nlm.nih.gov/pubmed/30229581
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3803/EnM.2018.33.3.413
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