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 in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

Molecular vision - 5 Sept 2009

Azam Maleeha, Collin Rob W J, Khan Muhammad Imran, Shah Syed Tahir Abbas, Qureshi Nadeem, Ajmal Muhammad, den Hollander Anneke I, Qamar Raheel, Cremers Frans P M

Abstract excerpt

PURPOSE: The purpose of this study was to identify the underlying molecular genetic defect in a large consanguineous Pakistani family with Oguchi disease who had been given a diagnosis of autosomal recessive retinitis pigmentosa. METHODS: The family was genotyped with the Affymetrix 10K single nucleotide polymorphism array. Fine-mapping of a common homozygous region on chromosome 13q was performed using...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Consanguinity

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

Share to DNA Mutational Analysis

Share to Eye Diseases

Share to Family

Share to Fundus Oculi

Share to Haplotypes

Share to Pakistan

Source

Open in PubMed Open full text

Identifiers

PMID: 19753316
PMCID: PMC2742643

Genes

GRK1

Variants

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

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.PMID 19753316Read ↗

A novel variant in the G-protein receptor kinase (GRK1) causes Oguchi syndrome, type II, in an Egyptian family.Semantic proximity Read ↗

New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi diseaseSemantic proximity Read ↗

A Novel Homozygous GRK1 Mutation (P391H) in 2 Siblings with Oguchi Disease with Markedly Reduced Cone ResponsesSemantic proximity Read ↗

Genetic analysis and clinical features of three Chinese patients with 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 ↗

Expanding the Genetic Landscape of Congenital Stationary Night Blindness Through the Analysis of Consanguineous Pakistani Families.Semantic proximity Read ↗

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.Semantic proximity Read ↗

P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families.Semantic proximity Read ↗

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.Semantic proximity Read ↗

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

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.Semantic proximity Read ↗

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.Semantic proximity Read ↗

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