Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa.

Ophthalmology - 1 Apr 1995

Richards J E, Scott K M, Sieving P A

Abstract excerpt

PURPOSE: To determine the molecular basis of an early and severe form of autosomal dominant retinitis pigmentosa and to characterize the associated phenotype. METHODS: Visual function evaluation included electrophysiologic and psychophysical testing. Molecular genetic analysis included determining the DNA sequence of sections of the rhodopsin gene amplified by polymerase chain reaction and screening for changes...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Primers

Share to Molecular Sequence Data

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 7724183
DOI: 10.1016/s0161-6420(95)30972-4

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa.PMID 7724183Read ↗

Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin.Semantic proximity Read ↗

Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

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

A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.Semantic proximity Read ↗

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone OpsinsSemantic proximity Read ↗

Severe retinal degeneration caused by a novel rhodopsin mutation.Semantic proximity Read ↗

Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.Semantic proximity Read ↗

Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes.Semantic proximity Read ↗

Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.Semantic proximity Read ↗

Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.