Results 1 -
10
of
18
for
Achromatopsia 3
- ... Genetic Testing Registry: Achromatopsia 2 Genetic Testing Registry: Achromatopsia 3 Genetic Testing Registry: Achromatopsia 4 Genetic Testing Registry: ...
- ... 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 ...
- 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 ...
- ... 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- ...
- ... 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: ...
- ... 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 ...
- ... is unclear why some CNGA3 gene mutations cause achromatopsia and others result in progressive cone dystrophy. ... NCBI Gene ClinVar Johnson S, Michaelides M, ...
- ... 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 ...
- ... investigation of a large Tunisian family with complete achromatopsia: ... M, Koenekoop RK. A three base pair deletion encoding the amino acid (lysine- ...
- ... 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 ...