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

doi:10.1002/humu.1380050205

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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 mu...

Topics

Adrenal Hyperplasia, Congenital
Alleles
Base Sequence
Blotting, Southern
Female
France
Humans
Male
Meiosis
Molecular Sequence Data
Mutation
Nucleic Acid Hybridization
Pedigree
Steroid 21-Hydroxylase

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