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Article

A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).

Advances in experimental medicine and biology - 1 Jan 2012

Gardner Jessica C, Webb Tom R, Kanuga Naheed, Robson Anthony G, Holder Graham E, Stockman Andrew, Ripamonti Caterina, Ebenezer Neil D, Ogun Olufunmilola, Devery Sophie, Wright Genevieve A, Maher Eamonn R, Cheetham Michael E, Moore Anthony T, Michaelides Michel, Hardcastle Alison J

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Share to Aged, 80 and over
Share to Chromosomes, Human, X
Share to Color Vision Defects

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Retinal Cone Photoreceptor Cells

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Identifiers

PMID: 22183383
DOI: 10.1007/978-1-4614-0631-0_76

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Related research

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A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).PMID 22183383Read ↗

Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations.Semantic proximity Read ↗

Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision DisordersSemantic proximity Read ↗

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone OpsinsSemantic proximity Read ↗

X-linked cone dystrophy with an uncommon tapetal-like sheen caused by a novel RPGR variant.Semantic proximity Read ↗

Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.Semantic proximity Read ↗

Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.Semantic proximity Read ↗

NMNAT1 variants cause cone and cone-rod dystrophySemantic proximity Read ↗

Disease mechanisms of X‐linked cone dystrophy caused by missense mutations in the red and green cone opsinsSemantic proximity Read ↗

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.Semantic proximity Read ↗

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.Semantic proximity Read ↗

Visual and ocular findings in a family with X-linked cone dysfunction and protanopia.Semantic proximity Read ↗

Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.Semantic proximity Read ↗

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