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3. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Arch Ophthalmol; 1993 Nov; 111(11):1531-42. PubMed ID: 8240110 [Abstract] [Full Text] [Related]
10. Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene. Passerini I, Sodi A, Giambene B, Menchini U, Torricelli F. Eur J Ophthalmol; 2007 Oct; 17(6):1000-3. PubMed ID: 18050133 [Abstract] [Full Text] [Related]
15. [Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies]. Millá E, Héon E, Piguet B, Ducrey N, Butler N, Stone E, Schorderet DF, Munier F. Klin Monbl Augenheilkd; 1998 May; 212(5):305-8. PubMed ID: 9677563 [Abstract] [Full Text] [Related]
16. Analysis of peripherin/RDS gene for Japanese retinal dystrophies. Fujiki K, Hotta Y, Hayakawa M, Fujimaki T, Takeda M, Isashiki Y, Ohba N, Kanai A. Jpn J Ophthalmol; 1998 May; 42(3):186-92. PubMed ID: 9690896 [Abstract] [Full Text] [Related]