Article
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Human mutation - 1 Jul 2022
Solaki Maria, Baumann Britta, Reuter Peggy, Andreasson Sten, Audo Isabelle, Ayuso Carmen, Balousha Ghassan, Benedicenti Francesco, Birch David, Bitoun Pierre, Blain Delphine, Bocquet Beatrice, Branham Kari, Català-Mora Jaume, De Baere Elfride, Dollfus Helene, Falana Mohammed, Giorda Roberto, Golovleva Irina, Gottlob Irene, Heckenlively John R, Jacobson Samuel G, Jones Kaylie, Jägle Herbert, Janecke Andreas R, Kellner Ulrich, Liskova Petra, Lorenz Birgit, Martorell-Sampol Loreto, Messias André, Meunier Isabelle, Belga Ottoni Porto Fernanda, Papageorgiou Eleni, Plomp Astrid S, de Ravel Thomy J L, Reiff Charlotte M, Renner Agnes B, Rosenberg Thomas, Rudolph Günther, Salati Roberto, Sener E Cumhur, Sieving Paul A, Stanzial Franco, Traboulsi Elias I, Tsang Stephen H, Varsanyi Balázs, Weleber Richard G, Zobor Ditta, Stingl Katarina, Wissinger Bernd, Kohl Susanne
Abstract excerpt
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel...
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