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• W2010048790 abstract "Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia." @default.
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• W2010048790 date "2002-08-01" @default.
• W2010048790 modified "2023-10-14" @default.
• W2010048790 title "Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia" @default.
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• W2010048790 doi "https://doi.org/10.1086/341835" @default.
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