192 233

Cited 3 times in

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
MeSH
Child ; DNA/genetics* ; Eye Proteins/genetics* ; Humans ; Korea ; Male ; Mutation, Missense* ; Pedigree ; Photoreceptor Cells, Vertebrate ; Retinoschisis/genetics*
Keywords
Missense ; Mutation ; X-linked retinoschisis ; XLRS1
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.
Files in This Item:
T200600443.pdf Download
DOI
10.3341/kjo.2006.20.1.62
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Koh, Hyoung Jun(고형준) ORCID logo https://orcid.org/0000-0002-5932-8516
Kwon, Oh Woong(권오웅)
Kim, Sung Soo(김성수) ORCID logo https://orcid.org/0000-0002-0574-7993
Lee, Sung Chul(이성철) ORCID logo https://orcid.org/0000-0001-9438-2385
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/109296
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse