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Retinitis pigmentosa 30
- ... 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 ...
- ... North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 2002 Jun;70(6):1545-54. doi: 10.1086/340848. Epub 2002 Apr 30. Citation on PubMed or Free article on PubMed ...
- ... kDa protein retinal pigment epithelium-specific protein 65kDa retinitis pigmentosa 20 (autosomal recessive) retinoid isomerohydrolase retinol ... role in the visual cycle, human retinal disease, and gene therapy. Ophthalmic Genet. 2009 Jun;30(2):57-62. doi: 10.1080/13816810802626399. Citation ...
- ... 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 ...
- ... EM, Slusarski DC. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan ...
- ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition cone-rod homeobox ...