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Article

A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy.

European journal of haematology - 1 Mar 2012

Girolami Antonio, Scarparo Pamela, Bonamigo Emanuela, Santarossa Liliana, Cristiani Andrea, Moro Stefano, Lombardi Anna Maria

Abstract excerpt

A new mutation (Ile 436 Lys) was found in a cluster of patients in northeastern Italy. The mutation was present in five patients at the homozygote level and in one patient as a compound heterozygote with an already known mutation namely Glu 117 stop. All these patients showed a mild bleeding tendency mainly associated with deliveries or surgery. The first two patients were two sisters, and their parents were...

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Identifiers

PMID: 21999818
DOI: 10.1111/j.1600-0609.2011.01723.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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