Clotting Factors

Factor V-Factor VIII Deficiency Analyzed

Published in Blood Weekly, April 26th, 1999

Molecular analysis of combined factor V-factor VIII deficiency raises the possibility of additional genetic defects.

Combined factor V-factor VIII deficiency (F5F8D) is a rare, autosomal recessive coagulation disorder in which the levels of both coagulation factors V and VIII are diminished.

Previously, the F5F8D locus was mapped to a 1-cM interval on chromosome 18q21. Mutations in a candidate gene in this region, ERGIC-53, were recently found to be associated with the coagulation defect in nine Jewish families.

M. Neerman-Arbez of Switzerland's University of Geneva Medical School, and colleagues performed single-strand...

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Source: Blood Weekly (1999-04-26)

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