Associated Papers
Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.
Rasmussen DK et al.
Orphanet Journal of Rare Diseases, 2025
40448196 (PubMed )
Supplement: 13023_2025_3792_MOESM1_ESM.pdf
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions
An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.
Täger J et al.
Experimental Eye Research, 2018
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
Tanaka N et al.
Plos One, 2015
26407004 (PubMed )
Supplement: pone.0138943.s008.docx
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
Nishiguchi KM et al.
Human Mutation, 2005
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.
Goto-Omoto S et al.
Visual Neuroscience, 0
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