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Functional Consequences Of Disease-associated Mutations In The Pore Region Of Human Cone Photoreceptor CNG Channels

โœ Scribed by Koeppen, Katja; Reuter, Peggy; Ladewig, Thomas; Wissinger, Bernd


Book ID
121991734
Publisher
Biophysical Society
Year
2009
Tongue
English
Weight
43 KB
Volume
96
Category
Article
ISSN
0006-3495

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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