Article
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study.
Thrombosis and haemostasis - 1 Aug 2017
Quintavalle Gabriele, Riccardi Federica, Rivolta Gianna Franca, Martorana Davide, Di Perna Caterina, Percesepe Antonio, Tagliaferri Annarita
Abstract excerpt
Congenital factor VII (FVII) deficiency is a rare bleeding disorder caused by mutations in F7 gene with autosomal recessive inheritance. A clinical heterogeneity with poor correlation with FVII:C levels has been described. It was the objective of this study to identify genetic defects and to evaluate their relationships with phenotype in a large cohort of patients with FVII:C<50 %. One hundred twenty-three...
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