Dissecting the pathogenic mechanisms of
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Katja Koeppen; Peggy Reuter; Thomas Ladewig; Susanne Kohl; Britta Baumann; Samue
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Article
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2010
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John Wiley and Sons
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English
โ 454 KB
The CNGA3 gene encodes the A3 subunit of the cone photoreceptor cyclic nucleotide-gated (CNG) channel, an essential component of the phototransduction cascade. Certain mutations in CNGA3 cause autosomal recessive achromatopsia, a retinal disorder characterized by severely reduced visual acuity, lack