Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation
Articolo
Data di Pubblicazione:
2004
Citazione:
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation / R. Asselta, A. Bossone, L. Iannaccone, S. Duga, V. Brancaccio, M. Margaglione. - In: HAEMATOLOGICA. - ISSN 0390-6078. - 89:6(2004 Jun), pp. 761-762.
Abstract:
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Activated protein C; Factor V Leiden; Mutation
Elenco autori:
R. Asselta, A. Bossone, L. Iannaccone, S. Duga, V. Brancaccio, M. Margaglione
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