We report the results of gentamicin treatment in two FVII deficient patients homozygous for nonsense mutations in F7 gene. We demonstrated that gentamicin, at the given dose, induced in vivo only minimal effects on plasma FVII levels. Our observations and those in hemophilia patients warrant further investigation of the relationship between aminoglycoside- mediated correction and position and sequence context of nonsense mutations with different dosages, schedules or other aminoglycoside derivatives. This information is essential to evaluate the clinical applicability of this strategy as a life-saving

Gentamicin induces sub-therapeutic levels of coagulation factor VII in patients with nonsense mutations

Pinotti M.;Bernardi F.
2006

Abstract

We report the results of gentamicin treatment in two FVII deficient patients homozygous for nonsense mutations in F7 gene. We demonstrated that gentamicin, at the given dose, induced in vivo only minimal effects on plasma FVII levels. Our observations and those in hemophilia patients warrant further investigation of the relationship between aminoglycoside- mediated correction and position and sequence context of nonsense mutations with different dosages, schedules or other aminoglycoside derivatives. This information is essential to evaluate the clinical applicability of this strategy as a life-saving
2006
Pinotti, M.; Rizzotto, L.; Chuansumrit, A.; Mariani, G.; Bernardi, F.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/1207124
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