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Article

A molecular genetic study of factor XI deficiency.

Blood - 1 May 1991

Hancock J F, Wieland K, Pugh R E, Martinowitz U, Schulman S, Kakkar V V, Kernoff P B, Cooper D N

Abstract excerpt

Factor XI deficiency is a rare bleeding diathesis found predominantly in Ashkenazi Jewish kindreds. A recent study of six Jewish patients identified three distinct mutations (Types I, II, and III) in the factor XI gene that were sufficient to fully define the genotypes of the patients. We have investigated 63 patients with factor XI deficiency and find overall allele frequencies of 44% for the type II mutation,...

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PMID: 2018835

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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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A molecular genetic study of factor XI deficiency.PMID 2018835Read ↗

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One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews.Semantic proximity Read ↗

The Two Common Mutations Causing Factor XI Deficiency in Jews Stem From Distinct Founders: One of Ancient Middle Eastern Origin and Another of More Recent European OriginSemantic proximity Read ↗

Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families.Semantic proximity Read ↗

Factor XI deficiency in Ashkenazi Jews in Israel.Semantic proximity Read ↗

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