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Titolo Data di pubblicazione Autore(i) File
Identificazione della prima mutazione che causa un’alterazione dello splicing dell’mRNA per la catena gamma del fibrinogeno umano in un caso di afibrinogenemia 1-gen-2000 Asselta, R; Duga, S; Santagostino, E; Simonic, T; Giangrande, P; Malcovati, M; Mannucci, Pm; Tenchini, Ml
First identification of a splicing mutation in fibrinogen gamma-chain gene causing afibrinogenemia 1-gen-2000 Asselta, R; Duga, S; Santagostino, E; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Five new point mutations in fibrinogen alpha-chain gene causing afibrinogenemia 1-gen-2000 Asselta, R; Duga, S; Malcovati, M; Simonic, T; Santagostino, E; Mannucci, Pm; Tenchini, Ml
CHRNA3/CHRNA5/CHRNB4 cluster and autosomal dominant nocturnal frontal lobe epilepsy 1-gen-2000 Bonati, Mt; Asselta, R; Duga, S; Malcovati, M; Tenchini, Ml; Oldani, A; Zucconi, M; Ferini-Strambi, L; Dalprà, L
Severe factor V deficiency caused by two novel mutations in exon 13 of factor V gene 1-gen-2000 Montefusco, Mc; Duga, S; Asselta, R; Malcovati, M; van Wijk, R; van Solinge, W; Santagostino, E; Tenchini, Ml; Mannucci, Pm
Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE. Neuroreport. ; : 1-gen-2000 Bonati, Mt; Asselta, R; Duga, S; Ferinistrambi, L; Oldani, A; Zucconi, M; Malcovati, M; Dalpra, L; Tenchini, Ml
Congenital afibrinogenemia: identification of five new point mutations leading to Aalpha-chain truncations 1-gen-2000 Duga, S; Asselta, R; Santagostino, E; Malcovati, M; Mannucci, Pm; Tenchini, Ml
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 1-gen-2000 Montefusco, Mc; Duga, S; Asselta, R; Santagostino, E; Mancuso, G; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation 1-gen-2000 Asselta, R; Duga, S; Simonic, T; Malcovati, M; Santagostino, E; Giangrande, Pl; Mannucci, Pm; Tenchini, Ml
cDNA cloning of turtle prion protein 1-gen-2000 Simonic, T; Duga, S; Strumbo, B; Asselta, R; Ceciliani, F; AND RONCHI, S
The intron-containing L3 ribosomal protein gene (RPL3): sequence analysis and identification of U43 and of two novel intronic small nucleolar RNAs 1-gen-2000 Duga, S; Asselta, R; Malcovati, M; Tenchini, Ml; Ronchi, S; Simonic, T
Nocturnal frontal lobe epilepsy: sporadic versus familial cases 1-gen-2000 Ferini-Strambi, L; Oldani, A; Zucconi, M; Asselta, R; Bonati, Mt; Dalprá, L; Duga, S; Malcovati, M; Tenchini, Ml
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion 1-gen-2000 Duga, S; Asselta, R; Santagostino, E; Zeinali, S; Simonic, T; Malcovati, M; Mannucci, Pm; Tenchini, Ml
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker 1-gen-2000 Bonati, Mt; Duga, S; Asselta, R; Ferinistrambi, L; Oldani, A; Zucconi, M; Malcovati, M; Dalpra, L; Tenchini, Ml
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford 1-gen-2000 Montefusco, Mc; Asselta, R; VAN WIJK, R; Duga, S; Tenchini, Ml
Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE 1-gen-2000 Bonati, Mt; Asselta, R; Duga, S; Ferinistrambi, L; Oldani, A; Zucconi, M; Malcovati, M; Dalpra, L; Tenchini, Ml
Afibrinogenemia: identificazione di cinque nuove mutazioni nel gene FGB 1-gen-2001 Spena, S; Duga, Stefano; Asselta, Rosanna; Malcovati, M; Tenchini, Ml
Eterogeneità allelica della grave carenza di fattore V 1-gen-2001 Montefusco, Mc; Duga, Stefano; Asselta, Rosanna; Bianchi, V; Malcovati, M; Tenchini, Ml
Esistenza di almeno un quarto locus per l’ADNFLE 1-gen-2001 Combi, R; Bonati, Mt; Duga, S; Asselta, R; Oldani, A; Zucconi, M; Ferini-Strambi, L; Malcovati, M; Dalprà, L; Tenchini, Ml
Involvement of fibrinogen Bbeta-chain in the pathogenesis of congenital afibrinogenemia 1-gen-2001 Duga, S; Asselta, R; Spena, S; Santagostino, E; Peyvandi, F; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Mostrati risultati da 21 a 40 di 331
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