Factor X Leicester: Ile411Phe associated with a low antigen level and a disproportionately low functional activity of factor X
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1538-7836.2003.t01-3-00177.x/fullpdf
Reference14 articles.
1. Factor X and its deficiency states;Perry;Haemophilia,1997
2. Cloning and characterisation of the 5′ end (exon 1) of the gene encoding human factor X, a blood coagulation factor;Jagadeaswaran;Gene,1989
3. FX Nottingham and FX Taunton: two novel mutations resulting in loss of functional activity and an interpretation using molecular modelling;Deam;Thromb Haemost,2001
4. Gene mutations and three-dimensional structural analysis in 13 families with severe Factor X deficiency;Peyvandi;Br J Haematol,2002
5. Molecular modelling of ligand and mutation sites of the Type A domains of human von Willebrand factor and their relevance to von Willebrand's disease;Jenkins;Blood,1998
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1. Severe factor X deficiency in three unrelated Palestinian patients is caused by homozygosity for the mutation c302delG-correlation with thrombin generation and thromboelastometry;Blood Coagulation & Fibrinolysis;2011-12
2. Molecular basis of factor X deficiency cases from India;Haemophilia;2010-03
3. Unexplained Discrepancies in the Activity—Antigen Ratio in Congenital FX Deficiencies With Defects in the Catalytic Domain;Clinical and Applied Thrombosis/Hemostasis;2009-08-09
4. CoagMDB: a database analysis of missense mutations within four conserved domains in five vitamin K-dependent coagulation serine proteases using a text-mining tool;Human Mutation;2008-03
5. Recessively inherited coagulation disorders;Blood;2004-09-01
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