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Results 1 - 10 of 18 for Achromatopsia 3
  1. ... Genetic Testing Registry: Achromatopsia 2 Genetic Testing Registry: Achromatopsia 3 Genetic Testing Registry: Achromatopsia 4 Genetic Testing Registry: ...
  2. ... 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 ...
  3. 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 ...
  4. ... 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. ... on PubMed Wiszniewski W, Lewis RA, Lupski JR. Achromatopsia: the ... disomy 14. Hum Genet. 2007 May;121(3-4):433-9. doi: 10.1007/s00439-006- ...
  5. ... 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: ...
  6. ... basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. doi: 10.1073/pnas.0907720106. Epub 2009 Nov 3. Citation on PubMed or Free article on PubMed ...
  7. ... is unclear why some CNGA3 gene mutations cause achromatopsia and others result in progressive cone dystrophy. ... NCBI Gene ClinVar Johnson S, Michaelides M, ...
  8. ... 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 ...
  9. ... investigation of a large Tunisian family with complete achromatopsia: ... M, Koenekoop RK. A three base pair deletion encoding the amino acid (lysine- ...
  10. ... 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 ...
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