Molecular Pathogenesis of Achromatopsia Associated with Mutations in the Cone Cyclic Nucleotide-Gated Channel CNGA3 Subunit

Cone photoreceptor cyclic nucleotide-gated (CNG) channel is essential for central and color vision and visual acuity. Mutations in the cone channel subunits CNGA3 and CNGB3 are linked to achromatopsia and progressive cone dystrophy in humans. Over 50 mutations have been identified in the CNGA3 subun...

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Hlavní autoři: Ding, Xi-Qin, Fitzgerald, J. Browning, Quiambao, Alexander B., Harry, Cynthia S., Malykhina, Anna P.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370940/
https://ncbi.nlm.nih.gov/pubmed/20238023
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/978-1-4419-1399-9_28
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