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Achromatopsia 7
- ... Molecular basis of an inherited form of incomplete achromatopsia. J Neurosci. 2004 Jan 7;24(1):138-47. doi: 10.1523/JNEUROSCI. ...
- ... 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 ... utility gene card for: Achromatopsia - update 2013. Eur J Hum Genet. 2013 Nov; ...
- ... 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 ... H, Wissinger B, Zobor D. Achromatopsia. 2004 Jun 24 [updated 2018 Sep 20]. In: ...
- ... sensitive cone pigment gene associated with a tritan color vision defect. Vis ... color vision. Vision Res. 2011 Apr 13;51(7):633-51. doi: 10.1016/j.visres.2010. ...
- ... 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 ...
- ... have been found to cause the vision disorder achromatopsia. These mutations underlie a relatively small percentage of cases of complete achromatopsia, a form of the disorder characterized by a ...
- ... 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 ...
- ... 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 ...
- ... with farsightedness as a characteristic feature include microphthalmia, achromatopsia, aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, ...
- Retinitis Pigmentosa (Foundation Fighting Blindness)Usher Syndrome/Learn More ... Usher Syndrome ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...