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

A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness

1 Jan 1999

Abstract excerpt

More than 100 mutations within the rhodopsin gene have been found to be responsible for some forms of retinitis pigmentosa, a progressive retinal degeneration characterized by night blindness and subsequent disturbance of day vision that may eventually result in total blindness. Congenital stationary night blindness (CSNB) is an uncommon inherited retinal dysfunction in which patients complain of night vision...

Read the complete abstract on PubMed

Topics

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

Share to Photoreceptor and optogenetics research
Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 9888392
DOI: 10.1002/(sici)1098-1004(1999)13:1<75::aid-humu9>3.0.co;2-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindnessPMID 9888392Read ↗

1 rhodopsin mutations in congenital night blindness.Semantic proximity Read ↗

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.Semantic proximity Read ↗

Constitutively active rhodopsin and retinal disease.Semantic proximity Read ↗

Congenital Stationary Night Blindness: Clinical and Genetic Features.Semantic proximity Read ↗

Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant.Semantic proximity Read ↗

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.Semantic proximity Read ↗

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.Semantic proximity Read ↗

Structural role of the T94I rhodopsin mutation in congenital stationary night blindness.Semantic proximity Read ↗

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.Semantic proximity Read ↗

Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.Semantic proximity Read ↗

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.Semantic proximity Read ↗

G-protein activation of the dark-state conformation of the visual G protein-coupled receptor rhodopsin by releasing critical structural constraints.Semantic proximity Read ↗

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