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Article

[Rapid genetic diagnosis of females carriers related to patients with choroideremia].

Journal francais d'ophtalmologie - 1 Jan 1997

Beaufrère L, Tuffery S, Hamel C, Bareil C, Arnaud B, Demaille J, Claustres M

Abstract excerpt

PURPOSE: By using the single strand conformation analysis to search for point mutations in the choroideremia gene, we had previously identified the first truncative mutation responsible for CHM in France. The aim of the present study was to perform a simple and nonisotopic routine test to identify carriers and non carriers in the relevant family. METHODS: We used a PCR-based restriction analysis to detect the...

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Source

Identifiers

PMID: 9499978

Genes

CHM

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Rapid genetic diagnosis of females carriers related to patients with choroideremia].PMID 9499978Read ↗

Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.Semantic proximity Read ↗

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

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

Novel truncating mutations of the CHM gene in Chinese patients with choroideremia.Semantic proximity Read ↗

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.Semantic proximity Read ↗

Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.Semantic proximity Read ↗

Prenatal diagnosis of choroideremia.Semantic proximity Read ↗

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.Semantic proximity Read ↗

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

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

Clinical findings in a carrier of a new mutation in the choroideremia gene.Semantic proximity Read ↗

New type of mutations in three spanish families with choroideremia.Semantic proximity Read ↗

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