Molecular genetic characteristics of X-linked retinoschisis in Koreans.

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Molecular genetic characteristics of X-linked retinoschisis in Koreans.

Molecular vision - 1 Jan 2009

Kim So Yeon, Ko Hyun Soo, Yu Young Suk, Hwang Jeong-Min, Lee Jong Joo, Kim Sung Yeun, Kim Ji Yeon, Seong Moon-Woo, Park Kyu Hyung, Park Sung Sup

Abstract excerpt

PURPOSE: X-linked retinoschisis (XLRS) is a recessively inherited disorder that causes macular degeneration and resultant visual defect in young males. Many genetic studies had focused on the patients in Western countries. We characterized the mutational spectrum of the RS1 gene in Korean patients with XLRS, and aimed to provide genetic information of XLRS in an Asian population. METHODS: This study enrolled 17...

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PMID: 19390641
PMCID: PMC2672147

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