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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 to be heterozygous for the mutation, whereas eight clinically normal family members and 29 unrelated normal...

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Identifiers

PMID: 1484692
DOI: 10.3109/13816819209046483

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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.

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

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