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Article

Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.

British journal of haematology - 1 Jun 2005

Hill Marian, McLeod Fiona, Franks Hester, Gordon Ben, Dolan Gerry

Abstract excerpt

The genetic basis of factor XI (FXI) deficiency was investigated in 30 patients from 13 different families of non-Jewish origin. Twelve different mutations were detected (including six novel changes), seven missense mutations and three mutations leading to null alleles. Haplotype analysis suggested a large gene deletion in one family. We confirmed the presence of a recently reported Alu-mediated FXI gene...

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Identifiers

PMID: 15953011
DOI: 10.1111/j.1365-2141.2005.05536.x

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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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