The present report provides an insight into the molecular mechanism underlying marked APC resistance that results from the combination of a frequent gain-of-function mutation (FV R506Q) and a novel FV mutation (Stop at codon 712). This null mutation is not peculiar to pseudo-homozygous APC resistance but belongs to the pool of FV gene mutations present in the normal population

A novel factor V null mutation detected in a thrombophilic patient with pseudo-homozygous APC resistance and in an asymptomatic unrelated subject

LUNGHI, Barbara;BERNARDI, Francesco;
1998

Abstract

The present report provides an insight into the molecular mechanism underlying marked APC resistance that results from the combination of a frequent gain-of-function mutation (FV R506Q) and a novel FV mutation (Stop at codon 712). This null mutation is not peculiar to pseudo-homozygous APC resistance but belongs to the pool of FV gene mutations present in the normal population
1998
Lunghi, Barbara; Castoldi, E; Mingozzi, F; Bernardi, Francesco; Castaman, G.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/1197711
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