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Article

Use of PCR-Based Amplification Analysis as a Substitute for the Southern Blot Method for CYP21 Deletion Detection in Congenital Adrenal Hyperplasia

25 May 2004

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder caused mainly by defects in the steroid 21-hydroxylase gene (CYP21). The defective CYP21 genes in CAH fall into one of three categories: (a) small-scale conversions from CYP21P; (b) spontaneous mutations; and (c) chimeric RCCX modules that include the chimeric CYP21P/CYP21 gene (1) and the chimeric TNXA/TNXB gene (2)(3)(4). The RCCX...

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Identifiers

PMID: 15161727
DOI: 10.1373/clinchem.2003.028597

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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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