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- W1965046479 abstract "Purpose We identified genetic mutations and characterized their associated phenotypes in patients with retinitis pigmentosa. Methods Patients with retinitis pigmentosa were prospectively examined and screened for genetic mutations. Results A 46-year-old man with retinitis pigmentosa was found to have a heterozygous mutation in the peripherin/RDS gene (arginine-46-stop). He had late onset of symptoms and demarcated peripheral retinal atrophy. All five first-degree relatives including his parents had no detectable mutations or retinitis pigmentosa. Genotypic data were consistent with reported family structure. Conclusions This study shows that new dominant mutations are a rare cause of isolated, or simplex, cases of retinitis pigmentosa. Identification of these mutations is helpful for genetic counseling." @default.
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- W1965046479 date "1995-01-01" @default.
- W1965046479 modified "2023-09-26" @default.
- W1965046479 title "Retinitis Pigmentosa Associated With a Dominant Mutation in Codon 46 of the Peripherin/RDS Gene (Arginine-46-Stop)" @default.
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- W1965046479 doi "https://doi.org/10.1016/s0002-9394(14)73815-2" @default.
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