Cited 3 times in
A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 고형준 | - |
dc.contributor.author | 권오웅 | - |
dc.contributor.author | 김성수 | - |
dc.contributor.author | 이성철 | - |
dc.date.accessioned | 2015-06-10T12:09:35Z | - |
dc.date.available | 2015-06-10T12:09:35Z | - |
dc.date.issued | 2006 | - |
dc.identifier.issn | 1011-8942 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/109296 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 62~64 | - |
dc.relation.isPartOf | Korean Journal of Ophthalmology | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Child | - |
dc.subject.MESH | DNA/genetics* | - |
dc.subject.MESH | Eye Proteins/genetics* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Mutation, Missense* | - |
dc.subject.MESH | Pedigree | - |
dc.subject.MESH | Photoreceptor Cells, Vertebrate | - |
dc.subject.MESH | Retinoschisis/genetics* | - |
dc.title | A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Ophthalmology (안과학) | - |
dc.contributor.googleauthor | Hyoung Jun Koh | - |
dc.contributor.googleauthor | Nam Soo Jwa | - |
dc.contributor.googleauthor | Sung Soo Kim | - |
dc.contributor.googleauthor | Sung Chul Lee | - |
dc.contributor.googleauthor | Oh Woong Kwon | - |
dc.identifier.doi | 10.3341/kjo.2006.20.1.62 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00571 | - |
dc.contributor.localId | A00152 | - |
dc.contributor.localId | A00235 | - |
dc.contributor.localId | A02873 | - |
dc.relation.journalcode | J02931 | - |
dc.identifier.pmid | 16768192 | - |
dc.subject.keyword | Missense | - |
dc.subject.keyword | Mutation | - |
dc.subject.keyword | X-linked retinoschisis | - |
dc.subject.keyword | XLRS1 | - |
dc.contributor.alternativeName | Koh, Hyoung Jun | - |
dc.contributor.alternativeName | Kwon, Oh Woong | - |
dc.contributor.alternativeName | Kim, Sung Soo | - |
dc.contributor.alternativeName | Lee, Sung Chul | - |
dc.contributor.affiliatedAuthor | Kim, Sung Soo | - |
dc.contributor.affiliatedAuthor | Koh, Hyoung Jun | - |
dc.contributor.affiliatedAuthor | Kwon, Oh Woong | - |
dc.contributor.affiliatedAuthor | Lee, Sung Chul | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 20 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 62 | - |
dc.citation.endPage | 64 | - |
dc.identifier.bibliographicCitation | Korean Journal of Ophthalmology, Vol.20(1) : 62-64, 2006 | - |
dc.identifier.rimsid | 52259 | - |
dc.type.rims | ART | - |
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