Article

Molecular Analysis of the ERGIC-53 Gene in 35 Families With Combined Factor V-Factor VIII Deficiency

1999-04-01

Abstract excerpt

Abstract 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 perfo...

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Literature Corpus work: 9c2f36a5-55b9-5b89-b306-e190720413fd
DOI: 10.1182/blood.v93.7.2253

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