Claudia Dall'Osso

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The protein kinase C alpha (PRKCA) gene, encoding a Th17-cell-selective kinase, was repeatedly associated with multiple sclerosis (MS), but the underlying pathogenic mechanism remains unknown. We replicated the association in Italians (409 cases, 723 controls), identifying a protective signal in the PRKCA promoter (P = 0.033), and a risk haplotype in intron(More)
Congenital factor V (FV) deficiency is a rare coagulopathy associated with moderate to severe bleeding symptoms. A total of 34 mutations, all located in the FV gene (F5), have been described in patients with severe FV deficiency, only eight of them being of Asian descent. Sequencing of F5 in five unrelated Indian patients identified three novel small(More)
BACKGROUND Factor V deficiency is a rare autosomal recessive hemorrhagic disorder, associated with bleeding manifestations of variable severity. In the present study, we investigated the molecular basis of factor V deficiency in three patients, and performed a comprehensive analysis of the factor V gene (F5) splicing pattern. DESIGN AND METHODS Mutational(More)
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