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

Haematologica - 1 Jun 2004

Asselta Rosanna, Bossone Anna, Iannaccone Luigi, Duga Stefano, Brancaccio Vincenzo, Margaglione Maurizio

Abstract excerpt

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...

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PMID: 15194551

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APC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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