Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations.
Acta haematologica(2023)
Abstract
Our results confirm that the four mutations in the F11 gene are causative in the 2 FXI deficiency families. Moreover, the p.H145R mutation is a cross-reactive material (CRM)-positive phenotype. The other three mutations are CRM-negative phenotypes and lead to FXI protein secretion disorder.
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Key words
Factor XI deficiency,Gene mutation,In vitro expression
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