dc.contributor.author | BERBER, ERGÜL | |
dc.contributor.author | Baslar, Zafer | |
dc.contributor.author | Lillicrap, David | |
dc.contributor.author | ÇAĞLAYAN, Server Hande | |
dc.contributor.author | Brown, Christine | |
dc.contributor.author | Ozbil, Mehmet | |
dc.date.accessioned | 2021-03-05T08:09:51Z | |
dc.date.available | 2021-03-05T08:09:51Z | |
dc.date.issued | 2017 | |
dc.identifier.citation | BERBER E., Ozbil M., Brown C., Baslar Z., ÇAĞLAYAN S. H. , Lillicrap D., "Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p. M771I, p. L881R and p. P1413L", BLOOD TRANSFUSION, cilt.15, ss.548-556, 2017 | |
dc.identifier.issn | 1723-2007 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_97772666-3a90-4cb9-9b96-4ecaa191a1f7 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/101954 | |
dc.identifier.uri | https://doi.org/10.2450/2016.0034-16 | |
dc.description.abstract | Background. Abnormalities in the biosynthetic pathway or increased clearance of plasma von Willebrand factor (VWF) are likely to contribute to decreased plasma VWF levels in inherited type 1 von Willebrand disease (VWD). Recent studies demonstrated that 65% of type 1 VWD patients have candidate VWF mutations, the majority of which are missense variants. The purpose of this study was to explore the effects of three VWF missense mutations (p. M771I, p. L881R and p. P1413L) located in different functional domains of VWF, reported as candidate mutations in type 1 VWD patients in the course of the MCMDM-1VWD study. | |
dc.language.iso | eng | |
dc.subject | Klinik Tıp | |
dc.subject | Hematoloji | |
dc.subject | Tıp | |
dc.subject | HEMATOLOJİ | |
dc.subject | İç Hastalıkları | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Klinik Tıp (MED) | |
dc.title | Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p. M771I, p. L881R and p. P1413L | |
dc.type | Makale | |
dc.relation.journal | BLOOD TRANSFUSION | |
dc.contributor.department | İstanbul Arel Üniversitesi , Fen Edebiyat Fakültesi , | |
dc.identifier.volume | 15 | |
dc.identifier.issue | 6 | |
dc.identifier.startpage | 548 | |
dc.identifier.endpage | 556 | |
dc.contributor.firstauthorID | 239686 | |