title: Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation.
abstract: A 60-year-old Italian woman presenting with factor VLeiden mutation but a normal activated protein C (APC) resistance, low functional and antigenic factor (FV) plasma levels, was found to have a novel heterozygous Gly2032Asp substitution located on the same allele. In transfected cells, the Gly2032Asp mutation caused an approximately 2-fold reduction of the intracellular FV protein and a 9-fold reduction of the secreted protein, suggesting that the Gly2032Asp substitution acts in cis on the allele carrying the FVLeiden mutation and rescues the APC-resistance phenotype.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Asselta
authors.forename: Anna
authors.initials: A
authors.lastname: Bossone
authors.forename: Luigi
authors.initials: L
authors.lastname: Iannaccone
authors.forename: Stefano
authors.initials: S
authors.lastname: Duga
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Brancaccio
authors.forename: Maurizio
authors.initials: M
authors.lastname: Margaglione
mesh_terms: D020016:Activated Protein C Resistance / Q000209:etiology / Q000235:genetics*; D005165:Factor V; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010641:Phenotype
chemical_list: C095381:factor V Leiden; D005165:Factor V