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Zhou, V. CNGA3 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5173 (accessed on 22 September 2026).
Zhou V. CNGA3 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5173. Accessed September 22, 2026.
Zhou, Vicky. "CNGA3 Gene" Encyclopedia, https://encyclopedia.pub/entry/5173 (accessed September 22, 2026).
Zhou, V. (2020, December 24). CNGA3 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5173
Zhou, Vicky. "CNGA3 Gene." Encyclopedia. Web. 24 December, 2020.
CNGA3 Gene
Edit

cyclic nucleotide gated channel alpha 3

genes

References

  1. Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER,Moore AT, Hunt DM. Achromatopsia caused by novel mutations in both CNGA3 andCNGB3. J Med Genet. 2004 Feb;41(2):e20.
  2. Koeppen K, Reuter P, Ladewig T, Kohl S, Baumann B, Jacobson SG, Plomp AS,Hamel CP, Janecke AR, Wissinger B. Dissecting the pathogenic mechanisms ofmutations in the pore region of the human cone photoreceptor cyclicnucleotide-gated channel. Hum Mutat. 2010 Jul;31(7):830-9. doi:10.1002/humu.21283.
  3. Kohl S, Jägle H, Wissinger B, Zobor D. Achromatopsia. 2004 Jun 24 [updated2018 Sep 20]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1418/
  4. Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. Total colourblindness is caused by mutations in thegene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cationchannel. Nat Genet. 1998 Jul;19(3):257-9.
  5. Patel KA, Bartoli KM, Fandino RA, Ngatchou AN, Woch G, Carey J, Tanaka JC.Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss offunction and impaired cellular trafficking of the cone CNG channel. InvestOphthalmol Vis Sci. 2005 Jul;46(7):2282-90.
  6. Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B; Achromatopsia Clinical Study Group. Mutations in CNGA3 impair trafficking or function of conecyclic nucleotide-gated channels, resulting in achromatopsia. Hum Mutat. 2008Oct;29(10):1228-36. doi: 10.1002/humu.20790.
  7. Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP,Klaver CC. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 inprogressive cone dystrophy. Ophthalmology. 2010 Apr;117(4):825-30.e1. doi:10.1016/j.ophtha.2009.09.008.
  8. Tränkner D, Jägle H, Kohl S, Apfelstedt-Sylla E, Sharpe LT, Kaupp UB, Zrenner E, Seifert R, Wissinger B. Molecular basis of an inherited form of incompleteachromatopsia. J Neurosci. 2004 Jan 7;24(1):138-47.
  9. Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S,Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, HoyngCB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G,Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E,Salati R, Sharpe LT, Kohl S. CNGA3 mutations in hereditary cone photoreceptordisorders. Am J Hum Genet. 2001 Oct;69(4):722-37.
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