Article
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Human molecular genetics - 15 Feb 2011
Grau Tanja, Artemyev Nikolai O, Rosenberg Thomas, Dollfus Hélène, Haugen Olav H, Cumhur Sener E, Jurklies Bernhard, Andreasson Sten, Kernstock Christoph, Larsen Michael, Zrenner Eberhart, Wissinger Bernd, Kohl Susanne
Abstract excerpt
Mutations in the gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase (PDE6C) have been recently reported in patients with autosomal recessive inherited achromatopsia (ACHM) and early-onset cone photoreceptor dysfunction. Here we present the results of a comprehensive study on PDE6C mutations including the mutation spectrum, its prevalence in a large cohort of ACHM/cone dysfunction...
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