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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. Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R,Anastasi M, Zrenner E, Sharpe LT, Wissinger B. Mutations in the CNGB3 geneencoding the beta-subunit of the cone photoreceptor cGMP-gated channel areresponsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet.2000 Sep 1;9(14):2107-16.
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, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T,Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG,Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P,Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B.CNGB3 mutations account for 50% of all cases with autosomal recessiveachromatopsia. Eur J Hum Genet. 2005 Mar;13(3):302-8.
5. Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM. Progressive cone dystrophy associated with mutation in CNGB3. InvestOphthalmol Vis Sci. 2004 Jun;45(6):1975-82.
6. Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, Maumenee IH. Genetic basis of total colourblindness among the Pingelapese islanders. NatGenet. 2000 Jul;25(3):289-93.
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. Wiszniewski W, Lewis RA, Lupski JR. Achromatopsia: the CNGB3 p.T383fsXmutation results from a founder effect and is responsible for the visualphenotype in the original report of uniparental disomy 14. Hum Genet. 2007May;121(3-4):433-9.