Characterization ofF8defects in haemophilia A in Pakistan: investigation of correlation between mutation type and thein vitrothrombin generation assay

Author:

Khanum F.1,Collins P. W.1,Harris R. L.1,Bowen D. J.1

Affiliation:

1. Department of Haematology; School of Medicine; Cardiff University; Cardiff UK

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Reference30 articles.

1. Physical map of human Xq27-qter: localizing the region of the fragile X mutation;Poustka;Proc Natl Acad Sci USA,1991

2. A 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus;Freije;Am J Hum Genet,1992

3. Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses;Liu;Thromb Haemost,2002

4. Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa;Pipe;Blood,2001

5. Inhibition of thrombin generation in plasma by fibrin formation (Antithrombin I);Bosch;Thromb Haemost,2002

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