200 211

Cited 0 times in

Schnyder씨 결정각막이상증 가족의 UBIAD1 유전자의 N102S 돌연변이

DC FieldValueLanguage
dc.contributor.author홍혜경-
dc.contributor.author김응권-
dc.contributor.author김태임-
dc.contributor.author정우석-
dc.date.accessioned2015-04-23T17:16:07Z-
dc.date.available2015-04-23T17:16:07Z-
dc.date.issued2010-
dc.identifier.issn0378-6471-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/102140-
dc.description.abstractPurpose: Schnyder crystalline corneal dystrophy (SCCD) is an autosomal dominant disease characterized by progressive central corneal opacification and premature development of peripheral arcus in the cornea. This disease results from a point mutation of UBIAD1 in chromosome 1p34-36. Until now, 15 different mutations of UBIAD1 gene on chromosome 1p34-36 have been reported for Schnyder crystalline corneal dystrophy. More point mutations are expected to be added to the list in the future. Schnyder crystalline corneal dystrophy is a rare disease, with only three reported cases in Korea, although there has been no report of a genetically confirmed case of the disease. Case summary: We encountered six patients with an N102S mutation of UBIAD1, who are from a family of two generation with 12 family members. Genetic confirmation for Schnyder crystalline corneal dystrophy was performed on these patients. This was the first report of a genetic confirmation of Schnyder crystalline corneal dystrophy in Korea. We will discuss our cases along with a review of the related literature-
dc.description.statementOfResponsibilityopen-
dc.format.extent440~446-
dc.relation.isPartOfJOURNAL OF THE KOREAN OPHTHALMOLOGICAL SOCIETY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleSchnyder씨 결정각막이상증 가족의 UBIAD1 유전자의 N102S 돌연변이-
dc.title.alternativeN102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Ophthalmology (안과학)-
dc.contributor.googleauthor정우석-
dc.contributor.googleauthor홍혜경-
dc.contributor.googleauthor김태임-
dc.contributor.googleauthor김은지-
dc.contributor.googleauthor김응권-
dc.identifier.doi10.3341/jkos.2010.51.3.440-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA04453-
dc.contributor.localIdA00831-
dc.contributor.localIdA01080-
dc.contributor.localIdA03665-
dc.relation.journalcodeJ01838-
dc.identifier.eissn2092-9374-
dc.subject.keywordCornea-
dc.subject.keywordN102S-
dc.subject.keywordSchnyder corneal dystrophy-
dc.subject.keywordSchnyder crystalline corneal dystrophy-
dc.subject.keywordUBIAD1-
dc.contributor.alternativeNameHong, Hye Kyoung-
dc.contributor.alternativeNameKim, Eung Kweon-
dc.contributor.alternativeNameKim, Tae Im-
dc.contributor.alternativeNameChung, Woo Suk-
dc.contributor.affiliatedAuthorHong, Hye Kyoung-
dc.contributor.affiliatedAuthorKim, Eung Kweon-
dc.contributor.affiliatedAuthorKim, Tae Im-
dc.contributor.affiliatedAuthorChung, Woo Suk-
dc.citation.volume51-
dc.citation.number3-
dc.citation.startPage440-
dc.citation.endPage446-
dc.identifier.bibliographicCitationJOURNAL OF THE KOREAN OPHTHALMOLOGICAL SOCIETY, Vol.51(3) : 440-446, 2010-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers

qrcode

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