Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population

BACKGROUND: 17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia, male pseudohermaphroditism and female gonadal dysplasia. Hundreds of patho...

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Detalles Bibliográficos
Autores principales: Wang, Menglin, Wang, Hao, Zhao, Haiying, Li, Ling, Liu, Min, Liu, Fujia, Meng, Fansen, Fan, Caini
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6792268/
https://www.ncbi.nlm.nih.gov/pubmed/31636948
http://dx.doi.org/10.1186/s40885-019-0128-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6792268/
https://www.ncbi.nlm.nih.gov/pubmed/31636948
http://dx.doi.org/10.1186/s40885-019-0128-6

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