Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel

Kirti A. Patel, Kristen M. Bartoli, Richard A. Fandino, Anita N. Ngatchou, Gustaw Woch, Jannette Carey, Jacqueline C. Tanaka

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Medicine & Life Sciences