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Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Among authors: bhattacharya ss. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002
Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype.
Evans K, Duvall-Young J, Fitzke FW, Arden GB, Bhattacharya SS, Bird AC. Evans K, et al. Among authors: bhattacharya ss. Arch Ophthalmol. 1995 Feb;113(2):195-201. doi: 10.1001/archopht.1995.01100020079033. Arch Ophthalmol. 1995. PMID: 7864751
450 results