Sfoglia per Autore
In vitro expression of a novel afibrinogenemia-causing missense mutation in the fibrinogen Bbeta-chain gene not associated with endoplasmic reticulum storage
2003-01-01 Asselta, R; Spena, S; Duga, S; Peyvandi, F; Mohanty, D; Malcovati, M; Mannucci, Pm; Tenchini, Ml
From Owren’s first parahemophilia case to present, characterization of missense mutations in the factor V gene by in vitro expression
2003-01-01 Duga, S; Asselta, R; Malcovati, M; Peyvandi, F; Mannucci, Pm; Tenchini, Ml
The discovery of Mary's mutation
2003-01-01 R, Holme; F, Brosstad; H, Stormorken; ASSELTA R, TENCHINI M. L
Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain
2003-01-01 Asselta, R; Montefusco, Mc; Duga, S.; Malcovati, M; Peyvandi, F; Mannucci, Pm; Tenchini, Ml.
Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene
2003-01-01 Spena, S; Asselta, R; Duga, S; Malcovati, M; Peyvandi, F; Mannucci, Pm; Tenchini, Ml
Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations
2003-01-01 Montefusco, Mc; Duga, S; Asselta, R; Malcovati, M; Peyvandi, F; Santagostino, E; Mannucci, Pm; Tenchini, Ml
Congenital afibrinogenemia, identification of four novel homozygous mutations in the fibrinogen gene cluster: three point mutations and a 15-kb deletion
2003-01-01 Duga, S; Asselta, R; Spena, S; Peyvandi, F; Malcovati, M; Mannucci, Pm; Tenchini, Ml
La tecnica del DNA pooling applicata allo screening mutazionale della afibrinogenemia congenita umana: identificazione di 3 nuove mutazioni
2003-01-01 Monaldini, L; Asselta, R; Malcovati, M; Tenchini, Ml; Duga, S
Eterogeneità allelica della carenza grave di fattore V della coagulazione: ampliamento dello spettro mutazionale ed espressione delle mutazioni missense identificate
2003-01-01 Asselta, R; Dall’Osso, C; Duga, S; Malcovati, M; Tenchini, Ml
Analisi genetico-molecolare della carenza grave di fattore XI della coagulazione in pazienti italiani
2003-01-01 Zadra, G; Duga, Stefano; Asselta, Rosanna; Malcovati, M; Tenchini, Ml
Allelic heterogeneity of severe factor V deficiency: doubling of the mutational spectrum of the factor V gene, and expression of the identified mutations
2003-01-01 Asselta, R; Montefusco, Mc; Duga, S; Peyvandi, F; Santagostino, E; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Two cases of congenital afibrinogenemia caused by potentially elusive mutations
2003-01-01 Spena, S; Duga, S; Asselta, R; Malcovati, M; Tenchini, Ml
Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein
2003-01-01 Duga, S; Montefusco, Mc; Asselta, R; Malcovati, M; Peyvandi, F; Santagostino, E; Mannucci, Pm; Tenchini, Ml
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4
2004-01-01 Spena, S; Asselta, R; Duga, S; Monaldini, L; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation
2004-01-01 Asselta, R; Bossone, A; Iannaccone, L; Duga, S; Brancaccio, V; Margaglione, M
Missense or splicing mutation? The case of a fibrinogen Bb-chain mutation causing severe hypofibrinogenemia
2004-01-01 Asselta, R; Duga, S; Spena, S; Peyvandi, F; Castaman, G; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients
2004-01-01 Zadra, G; Asselta, R; Malcovati, M; Santagostino, E; Peyvandi, F; Mannucci, Pm; Tenchini, Ml; Duga, S
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene
2004-01-01 Spena, S; Duga, S; Asselta, R; Peyvandi, F; Mahasandana, C; Malcovati, M; Tenchini, Ml
Family-based association analysis of the critical 3.4 Mb region on 17q24 reveals association between multiple sclerosis and the PRKCA gene
2004-01-01 Kallio, Sp; Saarela, J; Asselta, R; Chen, Dc; Jokiaho, A; Palotie, A; Peltonen, L
The genetic bases of congenital afibrinogenemia: an overview
2004-01-01 Duga, Stefano; Asselta, Rosanna; Spena, S; Malcovati, M; Mannucci, Pm; Tenchini, Ml
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