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A Gly1609Arg missense mutation in the vWF gene in a Korean patient with von Willebrand disease type 2A
DC Field | Value | Language |
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dc.contributor.author | 송재우 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 이은영 | - |
dc.contributor.author | 최종락 | - |
dc.contributor.author | 최승준 | - |
dc.date.accessioned | 2014-12-19T16:25:08Z | - |
dc.date.available | 2014-12-19T16:25:08Z | - |
dc.date.issued | 2012 | - |
dc.identifier.issn | 0091-7370 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/89489 | - |
dc.description.abstract | We describe a case of a c.4825G>A (p.Gly1609Arg [Gly846Arg]) missense mutation in the gene encoding von Willebrand factor (vWF) in a Korean patient with von Willebrand disease (vWD) type 2A. The proband is a 37-year-old female who suffers from dysmenorrhea and menorrhagia. On laboratory testing, we found a low (0.01) vWF:RCo/Ag ratio, a decrease in high and intermediate molecular weight multimers from plasma, and abnormalities in the collagen binding capacity of plasma vWF, all of which were indicative of vWD type 2. Family studies revealed that her sister, son, and daughter also had a low vWF:RCo/ Ag ratio and a decrease in high molecular weight multimers from plasma. Genetic analyses showed that she and her three family members had the same heterozygous c.4825G>A (p.Gly1609Arg [Gly846Arg]) missense mutation. To our knowledge, this is the first report of the c.4825G>A (p.Gly1609Arg [Gly846Arg]) heterozygote mutation in Korean family members with vWD type 2A. | - |
dc.description.statementOfResponsibility | open | - |
dc.relation.isPartOf | ANNALS OF CLINICAL AND LABORATORY SCIENCE | - |
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 | Adult | - |
dc.subject.MESH | Amino Acid Sequence | - |
dc.subject.MESH | Amino Acid Substitution/genetics* | - |
dc.subject.MESH | Asian Continental Ancestry Group/genetics* | - |
dc.subject.MESH | Base Sequence | - |
dc.subject.MESH | DNA Mutational Analysis | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Molecular Sequence Data | - |
dc.subject.MESH | Mutation, Missense/genetics* | - |
dc.subject.MESH | Pedigree | - |
dc.subject.MESH | Republic of Korea | - |
dc.subject.MESH | von Willebrand Disease, Type 2/genetics* | - |
dc.subject.MESH | von Willebrand Factor/chemistry | - |
dc.subject.MESH | von Willebrand Factor/genetics* | - |
dc.title | A Gly1609Arg missense mutation in the vWF gene in a Korean patient with von Willebrand disease type 2A | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Seung Jun Choi | - |
dc.contributor.googleauthor | Eun-Young Lee | - |
dc.contributor.googleauthor | Hee-Jin Kim | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.contributor.googleauthor | Jaewoo Song | - |
dc.contributor.googleauthor | Jong-Rak Choi | - |
dc.contributor.googleauthor | Jong-Ha Yoo | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A02054 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A04182 | - |
dc.contributor.localId | A03043 | - |
dc.relation.journalcode | J00155 | - |
dc.identifier.eissn | 1550-8080 | - |
dc.identifier.pmid | 22371917 | - |
dc.identifier.url | http://www.annclinlabsci.org/content/42/1/98.long | - |
dc.subject.keyword | von Willebrand factor | - |
dc.subject.keyword | von Willebrand disease | - |
dc.subject.keyword | missense mutation | - |
dc.contributor.alternativeName | Song, Jae Woo | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Lee, Eun Young | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Song, Jae Woo | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Lee, Eun Young | - |
dc.citation.volume | 42 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 98 | - |
dc.citation.endPage | 102 | - |
dc.identifier.bibliographicCitation | ANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.42(1) : 98-102, 2012 | - |
dc.identifier.rimsid | 31803 | - |
dc.type.rims | ART | - |
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