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- W2094373604 abstract "In Brief Purpose: To report a complex mutation in the peripherin/RDS gene found in a family in whom retinal pattern dystrophy is segregating as an autosomal dominant trait. Methods: Clinical data were collected from family members of a large Swiss family affected by autosomal dominant retinal pattern dystrophy. Single strand conformation polymorphism (SSCP) analysis of the candidate gene peripherin/RDS and subsequent sequencing of the first exon were performed. Results: Pattern dystrophy of the retina was suspected in 18 family members aged 30 years or older. Assuming a homogeneous phenotype, the candidate locus peripherin/RDS was investigated. SSCP analysis of the first exon of the peripherin/RDS gene showed an aberrant pattern in 18 affected individuals. Direct sequencing of polymerase chain reaction products detected a complex mutation, del265-268GCCA ins AGGGCC, leading to a stop codon at amino acid position 99. Conclusion: To our knowledge, we report the first complex mutation in the peripherin/RDS gene as the cause of a mild macular phenotype, supporting the importance of molecular diagnosis in genetic counseling. We found a novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy. To our knowledge, no complex mutation like the one shown here has been described in the peripherin/RDS gene." @default.
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- W2094373604 date "2006-10-01" @default.
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- W2094373604 title "A NOVEL COMPLEX MUTATION EVENT IN THE PERIPHERIN/RDS GENE IN A FAMILY WITH RETINAL PATTERN DYSTROPHY" @default.
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- W2094373604 doi "https://doi.org/10.1097/01.iae.0000250010.60908.e3" @default.
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