Article
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.
Human mutation - 1 Jul 2010
Koeppen Katja, Reuter Peggy, Ladewig Thomas, Kohl Susanne, Baumann Britta, Jacobson Samuel G, Plomp Astrid S, Hamel Christian P, Janecke Andreas R, Wissinger Bernd
Abstract excerpt
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 of color discrimination, photophobia, and nystagmus. We identified three novel mutations in the pore-forming region...
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