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Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche

BACKGROUND: Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilase is one of common disease with an autosomal recessive form. In this study, our aim is to detect the prevalence of eight common mutations in nonclassical congenital adrenal hyperplasia (NCAH). MATERIA...

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Detalles Bibliográficos
Autores principales: Kolahdouz, Mahsa, Hashemipour, Mahin, Khanahmad, Hossein, Rabbani, Bahareh, Salehi, Mansoor, Rabbani, Ali, Ansari, Arman, Naseri, Mona Mobalegh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4815525/
https://www.ncbi.nlm.nih.gov/pubmed/27099846
http://dx.doi.org/10.4103/2277-9175.178794