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Results 1 - 10 of 18 for Achromatopsia 3
  1. CNGB3 gene 
    ... while others result in progressive cone dystrophy. ACHM3 achromatopsia (rod monochromacy) 3 cyclic nucleotide gated channel beta 3 Tests of ... for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg.5201269. ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  2. Achromatopsia 
    ... Genetic Testing Registry: Achromatopsia 2 Genetic Testing Registry: Achromatopsia 3 Genetic Testing Registry: Achromatopsia 4 Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/achromatopsia - Genetics
  3. OPN1SW gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/opn1sw - Genetics
  4. Color Blindness (National Library of Medicine)  
    ... these colors differently than most people. There are three main kinds of color vision defects. Red-green color vision defects are the most ...
    https://medlineplus.gov/colorblindness.html - Health Topics
  5. PDE6H gene 
    ... nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32. doi: 10.1016/j.ajhg.2012.07.006. Epub 2012 Aug 16. Citation on PubMed or Free article on PubMed Central ... H, Wissinger B, Zobor D. Achromatopsia. 2004 Jun 24 [updated 2018 Sep 20]. In: ...
    https://medlineplus.gov/genetics/gene/pde6h - Genetics
  6. CNGA3 gene 
    ... is unclear why some CNGA3 gene variants cause achromatopsia, while others result in progressive cone dystrophy. ACHM2 cyclic nucleotide-gated channel, alpha-3 Tests of CNGA3 PubMed CYCLIC NUCLEOTIDE-GATED CHANNEL, ...
    https://medlineplus.gov/genetics/gene/cnga3 - Genetics
  7. PDE6C gene 
    ... to the brain. MedlinePlus Genetics ... phosphodiesterase 6C COD4 cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' PDEA2 phosphodiesterase 6C, ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
  8. Color vision deficiency 
    ... the condition from an affected parent. Color blindness Color vision defects ... Deeb SS. Molecular genetics of color-vision deficiencies. Vis Neurosci. 2004 May-Jun;21(3):191-6. doi: 10.1017/s0952523804213244. Citation on ...
    https://medlineplus.gov/genetics/condition/color-vision-deficiency - Genetics
  9. GNAT2 gene 
    ... investigation of a large Tunisian family with complete achromatopsia: ... M, Koenekoop RK. A three base pair deletion encoding the amino acid (lysine- ...
    https://medlineplus.gov/genetics/gene/gnat2 - Genetics
  10. 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
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