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Article

Late onset adrenal hyperplasia: mutation at codon 282 of the functional 21-hydroxylase gene is not ubiquitous.

Fertility and sterility - 1 Nov 1990

Wells G, Azziz R

Abstract excerpt

Ten patients affected with 21-hydroxylase (21-OH) deficient late-onset adrenal hyperplasia were studied to determine the prevalence of a mutation at codon 281 of the functional 21-OH gene (CYP21B) that results in a valine to leucine amino acid shift. This mutation has been reported in eight unrelated late-onset adrenal hyperplasia patients of Ashkenazi Jewish descent possessing the human leukocyte antigen-B14,DR1...

Topics

Adrenal Glands
Codon
Female
Gene Frequency
Genetic Markers
HLA Antigens
Humans
Hyperplasia
Male
Mutation
Nucleic Acid Hybridization
Oligonucleotide Probes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prevalence

Restriction Mapping

Steroid 21-Hydroxylase

Source

Identifiers

PMID: 2226916
DOI: 10.1016/s0015-0282(16)53939-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2226916-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Late onset adrenal hyperplasia: mutation at codon 282 of the functional 21-hydroxylase gene is not ubiquitous.PMID 2226916Read ↗

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