Article
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.
Blood - 1 Apr 1999
Neerman-Arbez M, Johnson K M, Morris M A, McVey J H, Peyvandi F, Nichols W C, Ginsburg D, Rossier C, Antonarakis S E, Tuddenham E G
Abstract excerpt
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. The F5F8D locus was previously 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. We performed...
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