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

doi:10.1007/BF00216142

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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 co...

Topics

Adrenal Hyperplasia, Congenital
Adult
Base Sequence
Child
DNA
Exons
Female
Gene Deletion
Genes, MHC Class I
Genes, MHC Class II
Haplotypes
Humans
Introns
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 8365724
DOI: 10.1007/BF00216142

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8365724-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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