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Article

Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.

Human genetics - 1 Aug 1993

Manfras B J, Swinyard M, Rudert W A, Ball E J, Lee P A, Kühnl P, Trucco M, Böhm B O

Abstract excerpt

Disorders of the CYP21 gene, which is located within the major histocompatibility complex on the short arm of chromosome 6, are the leading causes of congenital adrenal hyperplasia (CAH). The coding gene and a highly homologous pseudogene are tandemly arranged with the two genes for the fourth component of complement (C4A and C4B). To analyse the prevalence rates of mutations of the CYP21 genes and the...

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PMID: 8365724
DOI: 10.1007/BF00216142

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