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Article

A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine).

Ophthalmic paediatrics and genetics - 1 Sept 1992

Andréasson S, Ehinger B, Abrahamson M, Fex G

Abstract excerpt

This study documents the ophthalmological findings in a six-generation. Swedish family with autosomal dominant retinitis pigmentosa with a previously unknown rhodopsin, exon 2, mutation, Arg-135-Leu (CGG to CTG). Six affected patients from the family were available for analysis and were all found...

Topics

Adult
Aged
Arginine
Base Sequence
DNA
DNA Probes
Electrophoresis, Agar Gel
Electroretinography
Female
Fundus Oculi
Humans
Leucine
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Source

Identifiers

PMID: 1484692
DOI: 10.3109/13816819209046483

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1484692-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine).PMID 1484692Read ↗

Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations.Semantic proximity Read ↗

Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family.Semantic proximity Read ↗

Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.Semantic proximity Read ↗

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Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.Semantic proximity Read ↗

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Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.Semantic proximity Read ↗

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Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.Semantic proximity Read ↗

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