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- 2016
Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarcheKeywords: 21-hydroxylase deficiency, amplification-refractory mutation system polymerase chain reaction, CYP21A2 gene, nonclassic congenital adrenal hyperplasia Abstract: 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)
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