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

DC FieldValueLanguage
dc.contributor.author고형준-
dc.contributor.author권오웅-
dc.contributor.author김성수-
dc.contributor.author이성철-
dc.date.accessioned2015-06-10T12:09:35Z-
dc.date.available2015-06-10T12:09:35Z-
dc.date.issued2006-
dc.identifier.issn1011-8942-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/109296-
dc.description.abstractPurpose: 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.-
dc.description.statementOfResponsibilityopen-
dc.format.extent62~64-
dc.relation.isPartOfKorean Journal of Ophthalmology-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleA Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Ophthalmology (안과학)-
dc.contributor.googleauthorHyoung Jun Koh-
dc.contributor.googleauthorNam Soo Jwa-
dc.contributor.googleauthorSung Soo Kim-
dc.contributor.googleauthorSung Chul Lee-
dc.contributor.googleauthorOh Woong Kwon-
dc.identifier.doi10.3341/kjo.2006.20.1.62-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00571-
dc.contributor.localIdA00152-
dc.contributor.localIdA00235-
dc.contributor.localIdA02873-
dc.relation.journalcodeJ02931-
dc.contributor.alternativeNameKoh, Hyoung Jun-
dc.contributor.alternativeNameKwon, Oh Woong-
dc.contributor.alternativeNameKim, Sung Soo-
dc.contributor.alternativeNameLee, Sung Chul-
dc.contributor.affiliatedAuthorKim, Sung Soo-
dc.contributor.affiliatedAuthorKoh, Hyoung Jun-
dc.contributor.affiliatedAuthorKwon, Oh Woong-
dc.contributor.affiliatedAuthorLee, Sung Chul-
dc.rights.accessRightsfree-
dc.citation.volume20-
dc.citation.number1-
dc.citation.startPage62-
dc.citation.endPage64-
dc.identifier.bibliographicCitationKorean Journal of Ophthalmology, Vol.20(1) : 62-64, 2006-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers

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