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Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: Factor v Stanford THROMBOSIS AND HAEMOSTASIS Zehnder, J. L., Hiraki, D. D., Jones, C. D., Gross, N., GRUMET, F. C. 1999; 82 (3): 1097-1099

Abstract

An index patient with pseudohomozygosity for factor V Leiden was identified. Each of his two children inherited a different paternal factor V allele; a daughter was heterozygous for factor V Leiden, with 100% factor V activity, and a son was heterozygous for factor V deficiency, with 50% factor V activity. Genomic DNA was obtained from family members, and the 25 factor V exons and flanking intronic regions were sequenced in the proband and confirmed in the children. Within exon 13 of factor V, a 4 base insertion was found at NT 2856 in the proband and son. but not the daughter. This mutation, here designated factor V Stanford, results in a frameshift with loss of a thrombin activation site (R1545V) and premature termination of translation at amino acid 1560.

View details for Web of Science ID 000082421100018

View details for PubMedID 10494770