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Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김유리 | - |
dc.contributor.author | 김주원 | - |
dc.contributor.author | 김희정 | - |
dc.contributor.author | 송재우 | - |
dc.contributor.author | 오승환 | - |
dc.contributor.author | 유철주 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 최영철 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2014-12-19T16:41:56Z | - |
dc.date.available | 2014-12-19T16:41:56Z | - |
dc.date.issued | 2012 | - |
dc.identifier.issn | 0009-9163 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/90022 | - |
dc.description.abstract | The aim of this study was to investigate a mutation spectrum of F11 among Korean patients with factor XI (FXI) deficiency and to determine the haplotypes of mutations frequently found in Koreans. Thirteen unrelated patients from non-consanguineous families with FXI deficiency were included in the study. In the mutation analysis, the most frequently found mutations were Q263X (four cases; 31%) and Q226X (three cases; 23%). The frequency of Q263X-bearing haplotype was significantly different between normal and patient groups (p = 0.001), which is consistent with a founder effect of Q263X mutation. Testing for the presence of these two mutations should be the first genetic screening in Korean patients with FXI deficiency. | - |
dc.description.statementOfResponsibility | open | - |
dc.relation.isPartOf | CLINICAL GENETICS | - |
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 | Adolescent | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Aged | - |
dc.subject.MESH | Amino Acid Sequence | - |
dc.subject.MESH | Asian Continental Ancestry Group/genetics* | - |
dc.subject.MESH | Base Sequence | - |
dc.subject.MESH | Child | - |
dc.subject.MESH | Factor XI/genetics* | - |
dc.subject.MESH | Factor XI Deficiency/genetics* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Founder Effect* | - |
dc.subject.MESH | Haplotypes | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Middle Aged | - |
dc.subject.MESH | Molecular Sequence Data | - |
dc.subject.MESH | Mutation* | - |
dc.subject.MESH | Phenotype | - |
dc.subject.MESH | Polymorphism, Genetic | - |
dc.subject.MESH | Republic of Korea | - |
dc.subject.MESH | Young Adult | - |
dc.title | Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | J Kim | - |
dc.contributor.googleauthor | J Song | - |
dc.contributor.googleauthor | CJ Lyu | - |
dc.contributor.googleauthor | YR Kim | - |
dc.contributor.googleauthor | SH Oh | - |
dc.contributor.googleauthor | YC Choi | - |
dc.contributor.googleauthor | JH Yoo | - |
dc.contributor.googleauthor | JR Choi | - |
dc.contributor.googleauthor | H Kim | - |
dc.contributor.googleauthor | K-A Lee | - |
dc.identifier.doi | 21668437 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00943 | - |
dc.contributor.localId | A02054 | - |
dc.contributor.localId | A02386 | - |
dc.contributor.localId | A02524 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A04116 | - |
dc.contributor.localId | A04182 | - |
dc.contributor.localId | A00779 | - |
dc.contributor.localId | A01219 | - |
dc.relation.journalcode | J00574 | - |
dc.identifier.eissn | 1399-0004 | - |
dc.identifier.pmid | 21668437 | - |
dc.identifier.url | http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2011.01732.x/abstract | - |
dc.subject.keyword | F11 | - |
dc.subject.keyword | factor XI deficiency | - |
dc.subject.keyword | Koreans | - |
dc.subject.keyword | mutation spectrum | - |
dc.contributor.alternativeName | Kim, Yu Ri | - |
dc.contributor.alternativeName | Kim, Ju Won | - |
dc.contributor.alternativeName | Kim, Hee Jung | - |
dc.contributor.alternativeName | Song, Jae Woo | - |
dc.contributor.alternativeName | Oh, Seung Hwan | - |
dc.contributor.alternativeName | Lyu, Chuhl Joo | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Kim, Ju Won | - |
dc.contributor.affiliatedAuthor | Song, Jae Woo | - |
dc.contributor.affiliatedAuthor | Oh, Seung Hwan | - |
dc.contributor.affiliatedAuthor | Lyu, Chuhl Joo | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Choi, Young Chul | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Kim, Yu Ri | - |
dc.contributor.affiliatedAuthor | Kim, Heejung | - |
dc.citation.volume | 82 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 180 | - |
dc.citation.endPage | 186 | - |
dc.identifier.bibliographicCitation | CLINICAL GENETICS, Vol.82(2) : 180-186, 2012 | - |
dc.identifier.rimsid | 32607 | - |
dc.type.rims | ART | - |
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