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Achromatopsia 2
- ... Tanaka JC. Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel. Invest Ophthalmol Vis Sci. 2005 ... B; Achromatopsia Clinical Study Group. Mutations in CNGA3 impair trafficking ...
- ... Jorgensen AL, Wissinger B. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Invest Ophthalmol Vis ...
- ... Mollon JD, Maher ER, Moore AT, Hunt DM. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet. 2004 Feb;41(2):e20. doi: 10.1136/jmg.2003.011437. No ...
- ... of the OPN1LW gene.Less commonly, red-green color vision defects can ... depends entirely on the other two types of cones. The specific type of red- ...
- ... cones, color vision depends entirely on the other two types of cones. The ... defect called protanomaly occurs when a partially functional hybrid ...
- ... cones, color vision depends entirely on the other two types of cones. The ... defect called tritanomaly occurs when S cones function abnormally. ...
- ... have been found to cause the vision disorder achromatopsia. These mutations underlie a relatively small percentage of cases of complete achromatopsia, a form of the disorder characterized by a ...