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Results 1 - 10 of 17 for Achromatopsia 2
  1. CNGA3 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/cnga3 - Genetics
  2. Achromatopsia 
    ... monochromatism Genetic Testing Registry: Achromatopsia Genetic Testing Registry: Achromatopsia 2 Genetic Testing Registry: Achromatopsia 3 Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/achromatopsia - Genetics
  3. GNAT2 gene 
    ... Jorgensen AL, Wissinger B. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Invest Ophthalmol Vis ...
    https://medlineplus.gov/genetics/gene/gnat2 - Genetics
  4. Achromatopsia (American Association for Pediatric Ophthalmology and Strabismus)  
    Color Blindness/Specifics ... Color Blindness ... American Association for Pediatric Ophthalmology and Strabismus ... GLOSSARY, TERMS, ACRONYMS, PHRASES, DEFINITIONS, ...
    https://www.aapos.org/glossary/achromatopsia - External Health Links
  5. Color vision deficiency 
    ... shades of red, yellow, and green. Blue-yellow color vision defects (also called tritan defects), which are rarer, cause problems with differentiating shades of blue and green and cause difficulty distinguishing dark blue from black. These two forms of color vision deficiency disrupt color perception ...
    https://medlineplus.gov/genetics/condition/color-vision-deficiency - Genetics
  6. CNGB3 gene 
    ... Aboshiha J, Georgiou M, Bainbridge J, Michaelides M. Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options. Ophthalmic Genet. 2018 Apr;39(2):149-157. doi: 10.1080/13816810.2017.1418389. ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  7. OPN1MW gene 
    ... 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- ...
    https://medlineplus.gov/genetics/gene/opn1mw - Genetics
  8. OPN1LW gene 
    ... cones, color vision depends entirely on the other two types of cones. The ... defect called protanomaly occurs when a partially functional hybrid ...
    https://medlineplus.gov/genetics/gene/opn1lw - Genetics
  9. OPN1SW gene 
    ... cones, color vision depends entirely on the other two types of cones. The ... defect called tritanomaly occurs when S cones function abnormally. ...
    https://medlineplus.gov/genetics/gene/opn1sw - Genetics
  10. PDE6C gene 
    ... to the brain. MedlinePlus Genetics provides information about Achromatopsia More About This Health Condition MedlinePlus Genetics provides ... basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
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