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Retinitis pigmentosa 20
- ... kDa protein retinal pigment epithelium-specific protein 65kDa retinitis pigmentosa 20 (autosomal recessive) retinoid isomerohydrolase retinol isomerase RP20 RPE65_ ...
- ... RHO gene have been identified in people with retinitis pigmentosa. RHO gene mutations account for 20 to 30 percent of all cases of autosomal dominant retinitis pigmentosa, which is thought to be the most common ...
- ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition ... Huang L, Li S, Xiao X, Jia X, Wang P, Guo X, Zhang Q. Screening for variants in 20 genes in 130 unrelated patients with cone-rod ...
- ... a retinal pigment epithelium protein, bestrophin-1, cause retinitis ... Physiology (Bethesda). 2005 Oct;20:292-302. doi: 10.1152/physiol.00021.2005. ...
- ... j.ajhg.2011.10.001. Epub 2011 Oct 20. Citation on PubMed or Free article on ... recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 ...
- ... found to cause the X-linked form of retinitis pigmentosa. This condition primarily affects males, causing night blindness ... 70 percent of all cases of X-linked retinitis pigmentosa.Most of the mutations responsible for X-linked ...
- ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition CRUM1_HUMAN crumbs ... 1 (Drosophila) LCA8 RP12 Tests of CRB1 PubMed RETINITIS PIGMENTOSA 12; RP12 CRUMBS CELL POLARITY COMPLEX COMPONENT 1; ...
- ... with the development of an eye disorder called retinitis pigmentosa that causes vision loss in people with ataxia ... T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of ...
- ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition ABCA4_HUMAN ABCR ...
- ... but less severe, condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). A small number of mutations in the ...