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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Ding, Xi-Qin, Fitzgerald, J. Browning, Quiambao, Alexander B., Harry, Cynthia S., Malykhina, Anna P.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2010
Aiheet:
Linkit: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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