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Comprehensive Mutation Analysis of the CYP21A2 Gene

23 Sept 2013

Abstract excerpt

Congenital adrenal hyperplasia, due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of adrenal steroidogenesis caused by mutations in the CYP21A2 gene. Direct comparison of established and novel methodologies of CYP21A2 genetic analysis in a large cohort representing a wide range of genotypes has not been previously reported. We genotyped a cohort of 129 unrelated patients with 21-OHD,...

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PMID: 24071710
DOI: 10.1016/j.jmoldx.2013.06.001

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