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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 biochemical evidence of disease. These results create problems for the management of future pregnancies in such families...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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