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Article

Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.

Journal of human genetics - 1 Jan 2002

Lee Hsien-Hsiung, Niu Dau-Ming, Lin Ruey-Wen, Chan Peter, Lin Ching-Yu

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. More than 90% of CAH cases are caused by mutations of the CYP21 gene. Approximately 75% of the defective CYP21 genes are generated through intergenic recombination, termed "apparent gene conversion," from the neighboring CYP21Ppseudogene. A chimeric CYP21P/CYP21gene...

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Source

Identifiers

PMID: 12376740
DOI: 10.1007/s100380200077

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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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