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Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency
Authors:van Wijk R  Montefusco M C  Duga S  Asselta R  van Solinge W  Malcovati M  Tenchini M L  Mannucci P M
Affiliation:Department of Clinical Chemistry, University Medical Centre, Utrecht, The Netherlands.
Abstract:
Keywords:factor V deficiency    factor V gene    nonsense mutation    mRNA degradation
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