Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val)
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1538-7836.2005.01230.x/fullpdf
Reference17 articles.
1. Factor XI gene (F11) is located on the distal end of the long arm of human chromosome 4;Kato;Cytogenet Cell Genet,1989
2. Organization of the gene for human factor XI;Asakai;Biochemistry,1987
3. Factor XI deficiency - from molecular genetics to clinical management;O'Connell;Blood Coag Fibrinolysis,2003
4. Factor XI deficiency in Ashkenazi Jews in Israel;Asakai;N Engl J Med,1991
5. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene;Zivelin;Blood,2002
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3. Molecular analysis in 12 factor XI deficiency patients from China: Identification of three novel splicing mutations;Thrombosis Research;2020-08
4. Factor 11 single-nucleotide variants in women with heavy menstrual bleeding;Journal of Obstetrics and Gynaecology;2017-06-13
5. Clinical and molecular epidemiology of factor XI deficiency in India;Thrombosis Research;2016-11
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