CYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase Deficiency

17α-hydroxylase/17, 20-lyase deficiency (17OHD) is an autosomal recessive disease causing congenital adrenal hyperplasia and a rare cause of hypertension with hypokalemia. The CYP17A1 gene mutation leads to 17OHD and its clinical features. We described an 18 y/o female with clinical features of 17α-...

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Detalhes bibliográficos
Main Authors: Hwang, Daw-Yang, Hung, Chi-Chih, Riepe, Felix G., Auchus, Richard J., Kulle, Alexandra E., Holterhus, Paul-Martin, Chao, Mei-Chyn, Kuo, Mei-Chuan, Hwang, Shang-Jyh, Chen, Hung-Chun
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2011
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3180445/
https://ncbi.nlm.nih.gov/pubmed/21966534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0025492
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