Severe factor VII deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211→Term)
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2141.2001.02932.x/fullpdf
Reference22 articles.
1. A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule;Arbini;Blood,1996
2. Isolation and characterization of human factor VII. Activation of factor VII by factor Xa;Bajaj;Journal of Biological Chemistry,1981
3. A NlaIII polymorphism within the human factor VII gene;Chaing;Human Genetics,1994
4. Inherited factor VII deficiency: molecular genetics and pathophysiology;Cooper;Thrombosis and Haemostasis,1997
5. A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals;Green;Arteriosclerosis and Thrombosis,1991
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