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Schnyder씨 결정각막이상증 가족의 UBIAD1 유전자의 N102S 돌연변이
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 홍혜경 | - |
dc.contributor.author | 김응권 | - |
dc.contributor.author | 김태임 | - |
dc.contributor.author | 정우석 | - |
dc.date.accessioned | 2015-04-23T17:16:07Z | - |
dc.date.available | 2015-04-23T17:16:07Z | - |
dc.date.issued | 2010 | - |
dc.identifier.issn | 0378-6471 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/102140 | - |
dc.description.abstract | Purpose: 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.statementOfResponsibility | open | - |
dc.format.extent | 440~446 | - |
dc.relation.isPartOf | JOURNAL OF THE KOREAN OPHTHALMOLOGICAL SOCIETY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Schnyder씨 결정각막이상증 가족의 UBIAD1 유전자의 N102S 돌연변이 | - |
dc.title.alternative | N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Ophthalmology (안과학) | - |
dc.contributor.googleauthor | 정우석 | - |
dc.contributor.googleauthor | 홍혜경 | - |
dc.contributor.googleauthor | 김태임 | - |
dc.contributor.googleauthor | 김은지 | - |
dc.contributor.googleauthor | 김응권 | - |
dc.identifier.doi | 10.3341/jkos.2010.51.3.440 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A04453 | - |
dc.contributor.localId | A00831 | - |
dc.contributor.localId | A01080 | - |
dc.contributor.localId | A03665 | - |
dc.relation.journalcode | J01838 | - |
dc.identifier.eissn | 2092-9374 | - |
dc.subject.keyword | Cornea | - |
dc.subject.keyword | N102S | - |
dc.subject.keyword | Schnyder corneal dystrophy | - |
dc.subject.keyword | Schnyder crystalline corneal dystrophy | - |
dc.subject.keyword | UBIAD1 | - |
dc.contributor.alternativeName | Hong, Hye Kyoung | - |
dc.contributor.alternativeName | Kim, Eung Kweon | - |
dc.contributor.alternativeName | Kim, Tae Im | - |
dc.contributor.alternativeName | Chung, Woo Suk | - |
dc.contributor.affiliatedAuthor | Hong, Hye Kyoung | - |
dc.contributor.affiliatedAuthor | Kim, Eung Kweon | - |
dc.contributor.affiliatedAuthor | Kim, Tae Im | - |
dc.contributor.affiliatedAuthor | Chung, Woo Suk | - |
dc.citation.volume | 51 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 440 | - |
dc.citation.endPage | 446 | - |
dc.identifier.bibliographicCitation | JOURNAL OF THE KOREAN OPHTHALMOLOGICAL SOCIETY, Vol.51(3) : 440-446, 2010 | - |
dc.identifier.rimsid | 49971 | - |
dc.type.rims | ART | - |
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