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Article

Characterization of seven novel mutations causing factor XI deficiency.

Haematologica - 1 Oct 2007

Zucker Michal, Zivelin Ariella, Landau Meytal, Salomon Ophira, Kenet Gili, Bauduer Frederic, Samama Michel, Conard Jacqueline, Denninger Marie-Hélène, Hani Abu-Samra, Berruyer Micheline, Feinstein Donald, Seligsohn Uri

Abstract excerpt

BACKGROUND AND OBJECTIVES: Factor XI (FXI) deficiency is a rare autosomal recessive disorder, the main manifestation of which is injury-related bleeding. The disorder is rare in most populations, but common among Jews in whom two mutations, E117X and F283L, account for 98% of cases. Other mutations, C38R and C128X, are prevalent in French Basques and Britons, respectively. Additional sporadic mutations have been...

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PMID: 18024374
DOI: 10.3324/haematol.11526

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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