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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 family. The molecular study, performed by SSCP analysis of the 5 exon and the promotor region of the rhodopsin gene, direct...

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Identifiers

PMID: 9611733

Genes

RHO

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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 ↗

Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.Semantic proximity Read ↗

[The novel R252P mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan].Semantic proximity Read ↗

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

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