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Article

High-resolution melting curve (HRM) analysis to establish CYP21A2 mutations converted from the CYP21A1P in congenital adrenal hyperplasia.

Clinica chimica acta; international journal of clinical chemistry - 9 Oct 2011

Lin Yi-Ching, Lin Yu-Chih, Liu Ta-Chih, Chang Jan-Gowth, Lee Hsien-Hsiung

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease of an inborn error of steroid metabolism in humans. More than 90% of CAH cases are caused by mutations of the steroid 21-hydroxylase (CYP21A2) gene, and approximately 75% of the defective CYP21A2 genes are generated through an intergenic recombination with the neighboring CYP21A1P pseudogene. METHODS: A high-resolution melting...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 21762683
DOI: 10.1016/j.cca.2011.06.033

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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