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Article

Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.

Human mutation - 1 Aug 2006

Mitchell Michael, Mountford Roger, Butler Rachel, Alhaq Anwar, Dai Letian, Savidge Geoffrey, Bolton-Maggs Paula H B

Abstract excerpt

Factor XI deficiency is an autosomal bleeding disorder of variable severity. It is particularly common in the Ashkenazi Jewish population, the result of two founder mutations - E117X and F283L. Recent studies have shown the causative mutations of Factor XI deficiency, outside the Ashkenazi Jewish population, to be highly heterogeneous. We have studied 116 index cases, mostly from an ethnically diverse UK...

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Identifiers

PMID: 16835901
DOI: 10.1002/humu.9439

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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