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Article

A classification system for cross-reactive material-negative factor XI deficiency.

Blood - 15 Jun 2005

Kravtsov Dmitri V, Monahan Paul E, Gailani David

Abstract excerpt

The bleeding disorder associated with factor XI (fXI) deficiency is typically inherited as an autosomal recessive trait. However, some fXI mutations may be associated with dominant disease transmission. FXI is a homodimer, a feature that could allow certain mutations to exert a dominant-negative effect on wild-type fXI secretion through heterodimer formation. We describe 2 novel fXI mutations (Ser225Phe and...

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Identifiers

PMID: 15728123
DOI: 10.1182/blood-2004-05-1864
PMCID: PMC1895004

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Source receipt: pubmed, retrieved 7 Sept 2026.

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