PMID: 9450791Feb 5, 1998Paper

Consequences of factor IX mutations in 26 families with haemophilia B

British Journal of Haematology
A F WeinmannA R Thompson

Abstract

Haemophilia B is due to a variety of mutations within the factor IX gene. In the Seattle series, 26 additional unrelated families have had a mutation identified within the past 2 years. Of these, 11 were common recurrent point mutations identifiable by rapid restriction digest screening; eight of these probably represent founder mutations. 15 others were identified by sequencing amplified coding region fragments; eight are novel. Two each had frameshift and donor splice mutations and 11 had missense mutations. Five of these mutations associated with normal levels of circulating dysfunctional factor IX were computer modelled into coordinates for factor IXa.

References

Oct 10, 1995·Proceedings of the National Academy of Sciences of the United States of America·H BrandstetterW Bode
Feb 1, 1995·British Journal of Haematology·S H ChenA R Thompson
Jan 1, 1993·Methods in Enzymology·A R Thompson, S H Chen
Mar 1, 1996·American Journal of Hematology·A F WeinmannA R Thompson
Jan 1, 1997·Nucleic Acids Research·F GiannelliG G Brownlee

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Citations

May 14, 2004·Journal of Thrombosis and Haemostasis : JTH·P H B Bolton-MaggsU Seligsohn
Feb 9, 2007·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Rosa D'AmbrosioMaurizio Margaglione

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