Achromatopsia
Definition:
References:
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[1]. Bo Chang, et al. A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. [Content Brief]
[2]. I A Aligianis, et al. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet. 2002 Sep;39(9):656-60. [Content Brief]
[3]. M P Simunovic, et al. Colour vision deficiency. Eye (Lond). 2010 May;24(5):747-55. [Content Brief]
[4]. Muhammad Ansar, et al. Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet. 2015 Sep;134(9):941-50. [Content Brief]
[5]. S Kohl, et al. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet. 1998 Jul;19(3):257-9. [Content Brief]
[6]. Susanne Kohl, et al. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32. [Content Brief]
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