dc.contributor.author | Aktuglu, G | |
dc.contributor.author | Caglayan, SH | |
dc.contributor.author | Gurgey, A | |
dc.contributor.author | Kemahli, S | |
dc.contributor.author | Ozbek, U | |
dc.contributor.author | Onay, UV | |
dc.contributor.author | Kavakli, K | |
dc.contributor.author | Kilinc, Y | |
dc.date.accessioned | 2021-03-06T08:40:01Z | |
dc.date.available | 2021-03-06T08:40:01Z | |
dc.date.issued | 2003 | |
dc.identifier.citation | Onay U., Kavakli K., Kilinc Y., Gurgey A., Aktuglu G., Kemahli S., Ozbek U., Caglayan S., "Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations", BRITISH JOURNAL OF HAEMATOLOGY, cilt.120, ss.656-659, 2003 | |
dc.identifier.issn | 0007-1048 | |
dc.identifier.other | av_e213f1e0-fe85-460b-b813-7dbaf3028d25 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/148826 | |
dc.identifier.uri | https://doi.org/10.1046/j.1365-2141.2003.04141.x | |
dc.description.abstract | Heterogeneous mutations in the coagulation factor IX (FIX ) gene result in a bleeding tendency known as haemophilia B. The haemophilia B mutation database has a total of 2353 patient entries, including 10 of the estimated 1000 Turkish patients. In this study, a more comprehensive analysis of the molecular pathology of haemophilia B in Turkey revealed one large deletion and 33 point mutations in the FIX gene of 34 unrelated patients. Haplotype analysis using six polymorphic sites showed that the mutations identified in a total of 45 patients occurred on 13 different haplotypes and that each mutation was family specific. | |
dc.language.iso | eng | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Hematoloji | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | İç Hastalıkları | |
dc.subject | Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | HEMATOLOJİ | |
dc.title | Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations | |
dc.type | Makale | |
dc.relation.journal | BRITISH JOURNAL OF HAEMATOLOGY | |
dc.contributor.department | , , | |
dc.identifier.volume | 120 | |
dc.identifier.issue | 4 | |
dc.identifier.startpage | 656 | |
dc.identifier.endpage | 659 | |
dc.contributor.firstauthorID | 167593 | |