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Results 1 - 10 of 14 for Achromatopsia 5
  1. Achromatopsia 
    ... Genetic Testing Registry: Achromatopsia 4 Genetic Testing Registry: Achromatopsia 5 Genetic Testing Registry: Retinal cone dystrophy 3A Achromatopsia ...
    https://medlineplus.gov/genetics/condition/achromatopsia - Genetics
  2. GNAT2 gene 
    ... protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002 Aug;71(2):422-5. doi: 10.1086/341835. Epub 2002 Jun 20. Citation on PubMed or Free article on PubMed Central Kohl S, Jagle H, Wissinger B, Zobor D. Achromatopsia. 2004 Jun 24 [updated 2018 Sep 20]. In: ...
    https://medlineplus.gov/genetics/gene/gnat2 - Genetics
  3. CNGA3 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. Epub 2018 Jan 5. Citation on PubMed Johnson S, Michaelides M, Aligianis ...
    https://medlineplus.gov/genetics/gene/cnga3 - Genetics
  4. PDE6H gene 
    ... to the brain. MedlinePlus Genetics provides information about Achromatopsia More About This Health Condition ACHM6 GMP-PDE gamma phosphodiesterase 6H, cGMP-specific, cone, gamma RCD3 retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma Tests of PDE6H PubMed ...
    https://medlineplus.gov/genetics/gene/pde6h - Genetics
  5. PDE6C gene 
    ... to the brain. MedlinePlus Genetics provides ... 6C COD4 cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' PDEA2 phosphodiesterase 6C, cGMP- ...
    https://medlineplus.gov/genetics/gene/pde6c - 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. Epub 2018 Jan 5. Citation on PubMed Johnson S, Michaelides M, Aligianis ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  7. Color vision deficiency 
    ... that affect the perception of color. Red-green color vision defects are the most common form of color vision ... shades of red, yellow, and green. Blue-yellow color vision defects (also called tritan defects), which are rarer, cause ...
    https://medlineplus.gov/genetics/condition/color-vision-deficiency - Genetics
  8. OPN1LW gene 
    ... changes involving the OPN1LW gene cause red-green color vision defects, a form of color vision deficiency that makes ... of red, yellow, and green. Most red-green color vision defects result from structural rearrangements involving the OPN1LW and ...
    https://medlineplus.gov/genetics/gene/opn1lw - Genetics
  9. OPN1MW gene 
    ... changes involving the OPN1MW gene cause red-green color vision defects, a form of color vision deficiency that makes ... of red, yellow, and green. Most red-green color vision defects result from structural rearrangements involving the OPN1LW and ...
    https://medlineplus.gov/genetics/gene/opn1mw - Genetics
  10. OPN1SW gene 
    ... form of color vision deficiency called blue-yellow color vision defects or tritan defects. These defects cause problems with ... is called tritanopia. A less severe blue-yellow color vision defect called tritanomaly occurs when S cones function abnormally. ...
    https://medlineplus.gov/genetics/gene/opn1sw - Genetics
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