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Article

Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site.

Genomics - 1 Sept 1991

Keen T J, Inglehearn C F, Lester D H, Bashir R, Jay M, Bird A C, Jay B, Bhattacharya S S

Abstract excerpt

Several mutations in the rhodopsin gene in patients affected by autosomal dominant retinitis pigmentosa (ADRP) have recently been described. We report four new rhodopsin mutations in ADRP families, initially identified as hetero-duplexed PCR fragments on hydrolink gels. One is an in-frame 12-bp deletion of codons 68 to 71. The other three are point mutations involving codons 190, 211, and 296. Each alters the...

Topics

Amino Acid Sequence
Base Sequence
Deoxyribonucleotides
Female
Genes, Dominant
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retina

Retinitis Pigmentosa

Rhodopsin

Source

Identifiers

PMID: 1765377
DOI: 10.1016/0888-7543(91)90119-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1765377-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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