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Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients

BACKGROUND: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2). We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH. METHODS: A cross...

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Detalles Bibliográficos
Autores principales: Khan, Aysha H, Aban, Muniba, Raza, Jamal, ul Haq, Naeem, Jabbar, Abdul, Moatter, Tariq
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3050769/
https://www.ncbi.nlm.nih.gov/pubmed/21329531
http://dx.doi.org/10.1186/1472-6823-11-5