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Article

Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.

Journal of medical genetics - 1 Sept 1996

Rumsby G, Massoud A F, Avey C, Brook C G

Abstract excerpt

Mutation analysis in the family of a child with 21-hydroxylase deficiency showed that the father and affected child were homozygous for a mutation, A/C655G, believed to activate a cryptic splice site in intron 2 of the 21-hydroxylase gene. The father, who was clinically asymptomatic, showed no bi...

Topics

Adrenal Hyperplasia, Congenital
DNA Mutational Analysis
Disorders of Sex Development
Female
Gene Amplification
Genetic Carrier Screening
Genotype
Humans
Infant
Male
Phenotype
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

Steroid 21-Hydroxylase

Source

Open in PubMed Open full text

Identifiers

PMID: 8880587
DOI: 10.1136/jmg.33.9.798
PMCID: PMC1050741

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8880587-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.PMID 8880587Read ↗

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