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Article

Prenatal diagnosis of choroideremia.

Acta ophthalmologica Scandinavica. Supplement - 1 Jan 1996

Schwartz M, Rosenberg T

Abstract excerpt

With the mapping of the locus CHM for choroideremia and the subsequent cloning of the gene, reliable carrier and prenatal diagnosis has become a possibility. We discuss our experience with prenatal diagnosis of choroideremia, an X-linked choroidoretinal dystrophy leading to blindness in otherwise...

Topics

Adult
Base Sequence
Choroideremia
DNA
Female
Genetic Linkage
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Restriction Fragment Length
Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

Sex Chromosome Aberrations

X Chromosome

Source

Identifiers

PMID: 8741114
DOI: 10.1111/j.1600-0420.1996.tb00381.x

Genes

CHM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8741114-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of choroideremia.PMID 8741114Read ↗

Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT).Semantic proximity Read ↗

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.Semantic proximity Read ↗

[Genetic diagnosis of 3 families with choroideremia].Semantic proximity Read ↗

Cloning and characterization of the human choroideremia geneSemantic proximity Read ↗

Genetic analysis of choroideremia families in the Australian population.Semantic proximity Read ↗

Identification of mutations in Danish choroideremia families.Semantic proximity Read ↗

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.Semantic proximity Read ↗

Aberrant splicing of the CHM gene is a significant cause of choroideremiaSemantic proximity Read ↗

Choroideremia.Semantic proximity Read ↗

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.Semantic proximity Read ↗

Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.Semantic proximity Read ↗

Clinical diagnoses that overlap with choroideremia.Semantic proximity Read ↗

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