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Article

A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

20 Sept 2010

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 20850105
DOI: 10.1016/j.ajhg.2010.08.013

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A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night BlindnessPMID 20850105Read ↗

Congenital stationary night blindness: mutation update and clinical variability.Semantic proximity Read ↗

Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient.Semantic proximity Read ↗

[TRPM1, a new gene implicated in congenital stationary night blindness].Semantic proximity Read ↗

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.Semantic proximity Read ↗

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Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.Semantic proximity Read ↗

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophySemantic proximity Read ↗

Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant.Semantic proximity Read ↗

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Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing.Semantic proximity Read ↗

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

Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB).Semantic proximity Read ↗

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