Two new missense mutations (P134T and A244V) in the coagulation factor VII gene

Abstract

Hereditary coagulation factor VII (FVII) deficiency (Alexander et al., 1951) is a rare coagulopathy. Only 24 gene mutations (reviewed by Tuddenham et al., 1995) have been detected in the FVII gene, 13 of them occurring in exon 8, which encodes the catalytic domain. This report, describes two additional molecular variants identified in a Maltese kindred with hereditary FVII deficiency and established partial haplotypes, which could account for the diversity in levels of activity both among wild-type and mutant FVII proteins.