Factor Xi Deficiency
Last Posted: Aug 01, 2018
- CLINGEN Actionability Report for Factor XI Deficiency - F11
ClinGen Actionability Working Group
- Assessment of two contact activation reagents for the diagnosis of congenital factor XI deficiency.
Salloum-Asfar Salam, et al. Thrombosis research 2018 1 64-70
- Exploring the global landscape of genetic variation in coagulation factor XI deficiency.
Asselta Rosanna, et al. Blood 2017 6
- Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.
Shao Yanyan, et al. Blood cells, molecules & diseases 2016 5 29-34
- Factor XI deficiency
From NCATS Genetic and Rare Diseases Information Center
- Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians.
Zadra Giorgia, et al. Haematologica 2008 5 (5) 715-21
- Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.
Zivelin Ariella, et al. Blood 2002 4 (7) 2448-54
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- Alpha-1 Antitrypsin Deficiency
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