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- W2052296367 abstract "To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method.A novel Leu103Phe missense mutation was identified.A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis." @default.
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- W2052296367 date "2006-01-01" @default.
- W2052296367 modified "2023-10-16" @default.
- W2052296367 title "A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis" @default.
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- W2052296367 doi "https://doi.org/10.3341/kjo.2006.20.1.62" @default.
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