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

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.

Nature genetics - 1 Feb 1997

Yamamoto S, Sippel K C, Berson E L, Dryja T P

Abstract excerpt

Oguchi disease is a recessively inherited form of stationary night blindness due to malfunction of the rod photoreceptor mechanism. Patients with this disease show a distinctive golden-brown colour of the fundus that occurs as the retina adapts to light, called the Mizuo phenomenon. Recently a defect in arrestin, a member of the rod phototransduction pathway, was found to cause this disease in some Japanese...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Base Sequence
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Molecular Sequence Data

Share to Polymorphism, Single-Stranded Conformational

Share to Sequence Deletion

Source

Identifiers

PMID: 9020843
DOI: 10.1038/ng0297-175

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.PMID 9020843Read ↗

Genetic analysis and clinical features of three Chinese patients with Oguchi disease.Semantic proximity Read ↗

Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease.Semantic proximity Read ↗

Grk1 Missense Mutations in Type II Oguchi Disease: A Literature ReviewSemantic proximity Read ↗

A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.Semantic proximity Read ↗

A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report.Semantic proximity Read ↗

[Molecular genetic study of congenital stationary night blindness].Semantic proximity Read ↗

Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study.Semantic proximity Read ↗

1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease.Semantic proximity Read ↗

Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness.Semantic proximity Read ↗

Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohortSemantic proximity Read ↗

A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.Semantic proximity Read ↗

Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.Semantic proximity Read ↗

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