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Article

Three dominant-negative mutations in factor XI-deficient patients.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2011

Dai L, Rangarajan S, Mitchell M

Abstract excerpt

Factor XI (FXI) deficiency results from genetic defects of the F11 gene and is generally considered to be inherited in an autosomal recessive manner. However, the homodimeric structure of FXI allows, in some cases, the dominant-negative transmission of the disease. The aim of this study was to characterize novel missense mutations in three unrelated patients and verify the dominant-negative effects of these...

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Identifiers

PMID: 21457405
DOI: 10.1111/j.1365-2516.2011.02519.x

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