
KCI등재
학술저널
A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
- Hyoung Jun Koh Nam Soo Jwa Sung Soo Kim Sung Chul Lee Oh Woong Kwon
- 대한안과학회
- The Korean Journal of Ophthalmology
- Vol.20 No.1
- 등재여부 : KCI등재
- 2006.03
- 62 - 64 (3 pages)
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 and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method. Results: A novel Leu103Phe missense mutation was identified. Conclusions: A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis. Korean Journal of Ophthalmology 20(1):62-64, 2006
Case Report
Discussion
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