Factor XII Deficiency

Mutation identified as molecular basis of congenital coagulation FXII deficiency

Published in Blood Weekly, October 7th, 2004

A novel mutation is identified as a molecular basis of congenital coagulation Factor XII deficiency.

According to a study from Japan, the "factor XII (FXII) gene of a patient with congenital FXII deficiency" was analyzed and "a novel amino acid substitution (W486C) in the catalytic domain" was identified. "The proband was an asymptomatic 49-year-old Japanese female with abnormal coagulation test, discovered by chance."

"The FXII activity and antigen level were both under 10%," wrote K. Ishii and coworkers, "suggesting a cross-reacting material-negative FXII deficiency. Sequence analysis of the proband's FXII gene revealed a homozygous nucleotide...

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Source: Blood Weekly (2004-10-07)

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