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dc.contributor.authorAktuglu, G
dc.contributor.authorCaglayan, SH
dc.contributor.authorGurgey, A
dc.contributor.authorKemahli, S
dc.contributor.authorOzbek, U
dc.contributor.authorOnay, UV
dc.contributor.authorKavakli, K
dc.contributor.authorKilinc, Y
dc.date.accessioned2021-03-06T08:40:01Z
dc.date.available2021-03-06T08:40:01Z
dc.date.issued2003
dc.identifier.citationOnay 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.issn0007-1048
dc.identifier.otherav_e213f1e0-fe85-460b-b813-7dbaf3028d25
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/148826
dc.identifier.urihttps://doi.org/10.1046/j.1365-2141.2003.04141.x
dc.description.abstractHeterogeneous 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.isoeng
dc.subjectSağlık Bilimleri
dc.subjectHematoloji
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectHEMATOLOJİ
dc.titleMolecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations
dc.typeMakale
dc.relation.journalBRITISH JOURNAL OF HAEMATOLOGY
dc.contributor.department, ,
dc.identifier.volume120
dc.identifier.issue4
dc.identifier.startpage656
dc.identifier.endpage659
dc.contributor.firstauthorID167593


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