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Results 1 - 10 of 19 for Achromatopsia 3
  1. 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
  2. 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
  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 ...
    https://medlineplus.gov/colorblindness.html - Health Topics
  4. CNGB3 gene 
    ... 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- ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  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. PDE6C gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
  7. CNGA3 gene 
    ... is unclear why some CNGA3 gene mutations cause achromatopsia and others result in progressive cone dystrophy. ... NCBI Gene ClinVar Johnson S, Michaelides M, ...
    https://medlineplus.gov/genetics/gene/cnga3 - 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. 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
  10. 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
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