A 60-year-old Italian woman presenting with factor V Leiden 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 FV Leiden mutation and rescues the APC-resistance phenotype.
|Titolo:||Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation|
|Autori interni:||ASSELTA, ROSANNA (Primo)|
|Parole Chiave:||Activated protein C; Factor V Leiden; Mutation|
|Settore Scientifico Disciplinare:||Settore BIO/11 - Biologia Molecolare|
|Data di pubblicazione:||giu-2004|
|Appare nelle tipologie:||01 - Articolo su periodico|