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Article

A Novel Homozygous GRK1 Mutation (P391H) in 2 Siblings with Oguchi Disease with Markedly Reduced Cone Responses

28 Oct 2006

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 17070587
DOI: 10.1016/j.ophtha.2006.05.069

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Related research

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Click a neighbor to travelStep 1 · 12 closest

A Novel Homozygous GRK1 Mutation (P391H) in 2 Siblings with Oguchi Disease with Markedly Reduced Cone ResponsesPMID 17070587Read ↗

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

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

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

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

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.Semantic proximity Read ↗

Atypical presentation of Oguchi disease with severe cystoid macular edema and compound heterozygous SAG pathogenic variants.Semantic proximity Read ↗

A novel mutation in PRDM5 in brittle cornea syndrome.Semantic proximity Read ↗

Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.Semantic proximity Read ↗

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

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

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

A novel homozygous BEST1 mutation correlates with complex ocular phenotypes.Semantic proximity Read ↗

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