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dc.contributor.authorBerber, Ergülen_US
dc.contributor.authorYalçın Çapan, Özlemen_US
dc.contributor.authorPehlevan, Fundaen_US
dc.contributor.authorAkın, Mehmeten_US
dc.contributor.authorKavaklı, Kaanen_US
dc.contributor.authorÇağlayan, Handeen_US
dc.date.accessioned2016-03-16T10:28:17Z
dc.date.available2016-03-16T10:28:17Z
dc.date.issued2013
dc.identifier.citationBerber, E., Yalçın Çapan,Ö., Pehlevan,F., Akın, M., Kavaklı, K., Çağlayan, H. (2013). A common VWF exon 28 haplotype in the Turkish population. Clinical and Applied Thrombosis/Hemostasis. 19.5, 550-556.en_US
dc.identifier.issn10760296
dc.identifier.issn19382723
dc.identifier.urihttps://hdl.handle.net/20.500.12294/220
dc.identifier.urihttp://dx.doi.org/10.1177/1076029612441054
dc.description.abstractAn increasing number of mutations and polymorphisms have been identified in the von Willebrand factor (VWF) gene of patients with von Willebrand disease (VWD). Most of the sequence alterations are within exon 28, duplicated in the VWF pseudogene on chromosome 22. Genetic recombination causing the gene conversion between the VWF gene and its pseudogene is associated with multiple substitutions in the VWF gene and with VWD. In the present study, VWF gene exon 28 was analyzed in 33 patients with VWD by DNA sequencing. A total of 73% of the patients were heterozygous for p.D1472H, p.V1485L, p.1500A, p.1501F, p.L1503P, and p.S1506L single-nucleotide polymorphisms. Family analysis revealed that the gene conversion occurred between the VWF gene and its pseudogene in 3 patients. Case-control association analysis by Haploview 4.2 did not show an association between the haplotype and VWD. In conclusion, a common exon 28 haplotype in the Turkish population, which might have arisen from the gene conversion events in the founder population, was identified.en_US
dc.language.isoengen_US
dc.publisherElsevieren_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectVWFen_US
dc.subjectVWF Haplotypeen_US
dc.subjectVWF Gene Conversionen_US
dc.subjectVWF Exon 28en_US
dc.subjectVWDen_US
dc.titleA common VWF exon 28 haplotype in the Turkish populationen_US
dc.typearticleen_US
dc.relation.journalClinical and Applied Thrombosis/Hemostasisen_US
dc.contributor.departmentİstanbul Arel Üniversitesi, Fen Edebiyat Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_US
dc.contributor.authorIDTR51534en_US
dc.identifier.volume19en_US
dc.identifier.issue5en_US
dc.identifier.startpage550en_US
dc.identifier.endpage556en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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