Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation
Author:
Affiliation:
1. Haematology and Oncology Department Haemophilia and Thrombosis Centre; Giannina Gaslini Institute; Genova; Italy
2. Biopolimers and Proteomics Unit IRCCS AOU San Martino - IST National Institute for Cancer Research; Genova; Italy
Publisher
Wiley
Subject
Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ejh.12072/fullpdf
Reference8 articles.
1. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the FXI gene;Zivelin;Blood,2002
2. Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation;Quelin;J Thromb Haemost,2004
3. A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency;Bolton-Maggs;J Thromb Haemost,2004
4. A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy;Girolami;Eur J Haematol,2011
5. Identification of a novel mutation in non.Jewish factor XI deficient Kindred;Alhaq;Br J Haematol,1999
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Factor 11 single-nucleotide variants in women with heavy menstrual bleeding;Journal of Obstetrics and Gynaecology;2017-06-13
2. The spectrum of factor XI deficiency in Italy;Haemophilia;2013-09-24
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