Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia

CONTEXT: Congenital adrenal hyperplasia (CAH) is one of the inborn errors of metabolic disorder inherited in an autosomal recessive manner caused by the defects in the steroid 21 hydroxylase CYP21A2 gene. We analyzed the genotype of 62 patients with classic CAH. AIMS: To find out the underlying muta...

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Autores principales: Marumudi, Eunice, Sharma, Arundhati, Kulshreshtha, Bindu, Khadgawat, Rajesh, Khurana, Madan L., Ammini, Ariachery C.
Formato: Artigo
Lenguaje:Inglês
Publicado: Medknow Publications & Media Pvt Ltd 2012
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3354845/
https://ncbi.nlm.nih.gov/pubmed/22629504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/2230-8210.95679
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