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

Authors
 Hyoung Jun Koh  ;  Nam Soo Jwa  ;  Sung Soo Kim  ;  Sung Chul Lee  ;  Oh Woong Kwon 
Citation
 Korean Journal of Ophthalmology, Vol.20(1) : 62-64, 2006 
Journal Title
 Korean Journal of Ophthalmology 
ISSN
 1011-8942 
Issue Date
2006
Abstract
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.
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DOI
10.3341/kjo.2006.20.1.62
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실)
Yonsei Authors
고형준(Koh, Hyoung Jun)
권오웅(Kwon, Oh Woong)
김성수(Kim, Sung Soo) ORCID logo https://orcid.org/0000-0002-0574-7993
이성철(Lee, Sung Chul) ORCID logo https://orcid.org/0000-0001-9438-2385
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/109296
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