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
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
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
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
22334370 (PubMed )
Supplement: humu0033-0963-sd1.pdf
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Thiadens AA et al.
Ophthalmology, 2009
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).
Koeppen K et al.
The European Journal of Neuroscience, 2008
Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.
Muraki-Oda S et al.
Biochemical and Biophysical Research Communications, 2007
Genetics of color vision deficiencies.
Deeb SS et al.
Developments in Ophthalmology, 2003
CNGA3 mutations in hereditary cone photoreceptor disorders.
Wissinger B et al.
American Journal of Human Genetics, 2001
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