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Exploring the global landscape of genetic variation in coagulation factor XI deficiency.

Blood - 27 Jul 2017

Asselta Rosanna, Paraboschi Elvezia Maria, Rimoldi Valeria, Menegatti Marzia, Peyvandi Flora, Salomon Ophira, Duga Stefano

Abstract excerpt

Factor XI (FXI) deficiency is an autosomal bleeding disorder, usually posttrauma or postsurgery, characterized by reduced levels of coagulation FXI in plasma. The disease is highly prevalent in Ashkenazi Jews (heterozygote frequency, ∼9%), whereas it is considered a rare condition in most populations (prevalence of the severe deficiency, 1 in 106 in the white population). So far, >190 causative mutations have...

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PMID: 28615222
DOI: 10.1182/blood-2017-04-780148

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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