Identification and characterization of mutations in the promoter region of the factor VIII gene
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1538-7836.2011.04574.x/fullpdf
Reference18 articles.
1. Haemophilia A: from mutation analysis to new therapies;Graw;Nat Rev Genet,2005
2. Molecular biology of blood coagulation;Oldenburg;Semin Thromb Hemost,2001
3. Molecular basis of haemophilia A;Oldenburg;Haemophilia,2004
4. Structure of human factor VIII;Vehar;Nature,1984
5. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A;Lakich;Nat Genet,1993
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1. Identification of new F8 deep intronic variations in patients with haemophilia A;Haemophilia;2020-08-18
2. Evidence of pathogenicity of a mutation in 3′ untranslated region causing mild haemophilia A;Haemophilia;2016-05-24
3. Mini-gene assays confirm the splicing effect of deep intronic variants in the factor VIII gene;Thrombosis and Haemostasis;2016-01
4. Expression studies of mutant factor VIII alleles with premature termination codons with regard to inhibitor formation;Haemophilia;2014-03-07
5. Characterization of four novel molecular changes in the promoter region of the factor VIII gene;Haemophilia;2013-12-30
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