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.

Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation

ASSELTA R;DUGA S;
2004

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11699/9196
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