Article
Similarities and discrepancies in homozygous factor VII defects due to mutations in the region of residues Met298 to Cys310 (exon 8) in the catalytic domain of factor VII.
Laboratory hematology : official publication of the International Society for Laboratory Hematology - 1 Jun 2011
Girolami A, Berti de Marinis G, Bonamigo E, Vettore S
Abstract excerpt
Patients with the Arg304Gln mutation in factor VII Padua (FVII Padua) show discrepant activity levels that depend on the thromboplastin used in the assay system. This report investigates the possibility that residues close to Arg304 (exon 8) show the same discrepant behavior. All available homozygous patients with a mutation in a 13-residue region (preceding and following Arg304) have been evaluated. Only the...
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