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Achromatopsia 4
- The GNAT2 gene provides instructions for making one part (called the cone-specific alpha subunit) of a protein called transducin. This protein is found in ...
- ... Genetic Testing Registry: Achromatopsia 3 Genetic Testing Registry: Achromatopsia 4 Genetic Testing Registry: Achromatopsia 5 Genetic Testing Registry: ...
- ... sensitive cone pigment gene associated with a tritan color vision defect. Vis Neurosci. 2006 May-Aug;23(3-4):403-9. doi: 10.1017/S0952523806233169. Citation on ...
- ... properties of PDE6C mutants associated with autosomal recessive achromatopsia. Hum Mol Genet. 2011 Feb 15;20(4):719-30. doi: 10.1093/hmg/ddq517. Epub ...
- ... Cremers FP, Klaver CC. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha. ...
- ... Cremers FP, Klaver CC. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha. ...
- ... has been found to cause the vision disorder achromatopsia. It is a very rare cause of a form of the disorder called incomplete achromatopsia. This condition is characterized by limited color vision ...
- ... with farsightedness as a characteristic feature include microphthalmia, achromatopsia, aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, ...
- Bardet-Biedl Syndrome (Foundation Fighting Blindness)Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... What is Bardet Biedl Syndrome? Learn about the signs and symptoms of the ...
- Choroideremia (Foundation Fighting Blindness)Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...