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A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis

PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: 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...

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Detalles Bibliográficos
Autores principales:	Koh, Hyoung Jun, Jwa, Nam Soo, Kim, Sung Soo, Lee, Sung Chul, Kwon, Oh Woong
Formato:	Texto
Lenguaje:	English
Publicado:	The Korean Ophthalmological Society 2006
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908818/ https://www.ncbi.nlm.nih.gov/pubmed/16768192 http://dx.doi.org/10.3341/kjo.2006.20.1.62

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