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

Internet

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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