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Article

Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.

Human mutation - 1 Jan 1995

Barbat B, Bogyo A, Raux-Demay M C, Kuttenn F, Boué J, Simon-Bouy B, Serre J L, Mornet E

Abstract excerpt

The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. Eighty-nine percent of the CAH chromosomes were characterized. The most frequent mutations were a C-G substitution in intron 2, the deletion of the CYP21 gene and a T-A substitution in exon 4 in the...

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PMID: 7749410
DOI: 10.1002/humu.1380050205

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

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