INHERITED ALTERATIONS OF THE PROTHROMBINASE COMPLEX IN THROMBOPHILIAS

Pubblicazioni Scientifiche

• 2000 Blood

  Combinations of 4 mutations (FV R506Q, FVH1299R, FVY1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family

• 2000 NEW ENGLAND JOURNAL OF MEDICINE

  Polymorphisms in the factor VII gene and the risk of myocardial infarction in patients with coronary artery disease

• 2001 THROMBOSIS AND HAEMOSTASIS

  Functional properties of factor V and factor Va encoded by the R2-gene

• 2000 Blood

  Modulation of factor VII levels by intron 7 polymorphisms: population and in vitro studies

• 1999 ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

  Phenotype and genotype expression in pseudohomozygous factor V-LEIDEN - The need for phenotype analysis

• 1998 Blood

  A novel factor V null mutation detected in a thrombophilic patient with pseudo-homozygous APC resistance and in an asymptomatic unrelated subject

• 1998 THROMBOSIS AND HAEMOSTASIS

  Molecular bases of pseudo-homozygous APC resistance: The compound heterozygosity for FV R506Q and a FV null mutation results in the exclusive presence of FV Leiden molecules in plasma

• 2000 THROMBOSIS AND HAEMOSTASIS

  Mutations in the R2 FV gene affect the ratio between the two FV isoforms in plasma

• 1998 BRITISH JOURNAL OF HAEMATOLOGY

  Two novel mutations (Pro864His, Va1867Glu) causing type 2A von Willebrand disease and affecting a single restriction site in exon 28