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Cone dystrophy 4
- ... the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha. ...
- ... the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha. ...
- ... genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011. ...
- ... guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. J Med Genet. 2001 Sep;38(9):611-4. doi: 10.1136/jmg.38.9.611. No ...
- ... P, Guo X, Zhang Q. CRX variants in cone-rod dystrophy and mutation overview. Biochem Biophys Res Commun. 2012 Oct 5;426(4):498-503. doi: 10.1016/j.bbrc.2012. ...
- ... Alitalo T, Ramser J, Gorin MB. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet. 2002 Apr;70(4):1049-53. doi: 10.1086/339620. Epub 2002 ...
- ... EM, Alitalo T, Bech-Hansen NT. X linked cone-rod dystrophy, CORDX3, is caused by a ... L. Cav1.4 dysfunction and congenital stationary night blindness type 2. ...
- ... Neitz M. Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. J Opt Soc ... A novel mutation in the short-wavelength-sensitive cone pigment gene ... 2006 May-Aug;23(3-4):403-9. doi: 10.1017/S0952523806233169. Citation on ...
- ... Mollon JD, Maher ER, Hunt DM, Moore AT. Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2). Br J Ophthalmol. 2003 Nov; ...
- ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... Holder GE, Bradshaw K, Hunt DM, Moore AT. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the ...