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Article

[The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis].

Medicina clinica - 18 Apr 1998

Trujillo M J, del Río T, Reig C, Benítez J, García Sandoval B, Carballo M, Ayuso C

Abstract excerpt

We present a Spanish family affected with autosomal dominant pigmentary retinosis in which we have identified the mutation responsible for the disease (Pro347Leu) within the rhodopsin (RHO) gene. Complete ophthalmological and electrophysiological studies were performed in 14 members of this famil...

Topics

Adolescent
Adult
Child
DNA Mutational Analysis
Female
Humans
Male
Middle Aged
Mutation
Pedigree
Phenotype
Polymorphism, Single-Stranded Conformational

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinitis Pigmentosa

Rhodopsin

Spain

Source

Identifiers

PMID: 9611733

Genes

RHO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9611733-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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[The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis].PMID 9611733Read ↗

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Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4.Semantic proximity Read ↗

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.Semantic proximity Read ↗

Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

[A Chinese family with autosomal dominant retinitis pigmentosa and a pro347Leu rhodopsin gene mutation].Semantic proximity Read ↗

[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].Semantic proximity Read ↗

Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa.Semantic proximity Read ↗

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[Mutations of the rhodopsin gene and their phenotypic effects].Semantic proximity Read ↗

Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa.Semantic proximity Read ↗

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