Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations
Küçük Resim Yok
Tarih
2003
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Blackwell Publishing Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
haemophilia B, factor IX gene, mutations, DNA sequencing, haplotypes
Kaynak
British Journal of Haematology
WoS Q Değeri
Q1
Scopus Q Değeri
Cilt
120
Sayı
4
