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Article

Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Aug 2005

Francis Peter J, Fishman Gerald A, Trzupek Karmen M, MacDonald Ian M, Stone Edwin M, Weleber Richard G

Abstract excerpt

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Alkyl and Aryl Transferases
Share to Choroideremia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Electroretinography

Share to Protein Prenylation

Share to rab GTP-Binding Proteins

Share to Retina

Source

Identifiers

PMID: 16087855
DOI: 10.1001/archopht.123.8.1146

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.PMID 16087855Read ↗

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

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

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

Choroideremia carriers maintain a normal electro-oculogram (EOG).Semantic proximity Read ↗

Choroideremia.Semantic proximity Read ↗

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

A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.Semantic proximity Read ↗

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

Phenotype variations within a choroideremia family lacking the entire CHM gene.Semantic proximity Read ↗

Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia.Semantic proximity Read ↗

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

Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose.Semantic proximity Read ↗

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