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Decreased Catalytic Activity And Altered Activation Properties Of Pde6C Mutants Associated With Autosomal Recessive Achromatopsia
(Oxford Univ Press, 2011)
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 ...