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Article

Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.

American journal of human genetics - 1 Oct 1991

Sheffield V C, Fishman G A, Beck J S, Kimura A E, Stone E M

Abstract excerpt

Retinitis pigmentosa (RP) is a group of disorders characterized by progressive degeneration of the outer retina, resulting in night blindness, visual field loss, an abnormal electroretinogram, and characteristic retinal pigmentary changes. An important step in the understanding of RP has been the...

Topics

Amino Acid Sequence
Base Sequence
Electrophoresis, Polyacrylamide Gel
Exons
Female
Genetic Testing
Humans
Male
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Polymorphism, Genetic

Retinitis Pigmentosa

Rhodopsin

Source

Open in PubMed Open full text

Identifiers

PMID: 1897520
PMCID: PMC1683182

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1897520-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.Semantic proximity Read ↗

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Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis.Semantic proximity Read ↗

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