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Article

Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene.

Current eye research - 1 Jul 1998

Beaufrère L, Rieu S, Hache J C, Dumur V, Claustres M, Tuffery S

Abstract excerpt

PURPOSE: To characterize the effect on mRNA splicing of a yet undescribed mutation located in intron 13 splice-donor sequence (IVS13 + 3A --> C) in the Rab-Escort-protein 1 gene of a patient with choroideremia. METHODS: The base substitution was firstly detected by the Single Strand conformation analysis from genomic DNA. A REP-1 cDNA region encompassing exons 10-14 was then specifically amplified from...

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

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Share to Polymerase Chain Reaction

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 9678418

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

Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene.PMID 9678418Read ↗

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.Semantic proximity Read ↗

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.Semantic proximity Read ↗

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

A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.Semantic proximity Read ↗

Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatmentsSemantic proximity Read ↗

The functional effect of pathogenic mutations in Rab escort protein 1.Semantic proximity Read ↗

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

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

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

Choroideremia gene testingSemantic proximity Read ↗

Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia.Semantic proximity Read ↗

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

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