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A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene
2004-01-01 Duga, S; Spena, S; Asselta, R; Peyandi, F; Mahasandana, C; Malcovati, M; Mannucci, Pm; Tenchini, Ml
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene
2007-01-01 Spena, S; Asselta, R; Platè, M; Castaman, G; Duga, S; Tenchini, Ml
A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene
2013-01-01 Menegatti, M.; Balestra, D.; Fabrizzi, B.; Asselta, R.; Pinotti, M.; Peyvandi, F.
Allelic heterogeneity of severe factor V deficiency
2001-01-01 Montefusco, Mc; Duga, S; Asselta, R; Santagostino, E; Malcovati, M; Mannucci, Pm; 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
Alternative splicing and nonsense-mediated decay in the F5 gene
2007-01-01 Dall’Osso, C; Duga, S; Locatelli, N; Peyvandi, F; Tenchini, Ml; Asselta, R
Analysis of association of five newly identified polymorphisms in and fibrinogen genes with plasma fibrinogen levels
2000-01-01 Menegatti, M; Asselta, R; Duga, S; Malcovati, M; Bucciarelli, P; Tenchini, Ml; Mannucci, Pm
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy: a genetic analysis of 28 unrelated italian families
1998-01-01 Ferini-Strambi, L; Oldani, A; Zucconi, M; Asselta, R; Modugno, M; Duga, S; Bonati, Mt; Dalprà, L; Malcovati, M; Smirne, S; Tenchini, Ml
Characterization of productive and unproductive mRNA splicings in F11: identification of a novel coagulation FXI isoform
2008-01-01 Rimoldi, V; Guella, I; Asselta, R; De Cristofaro, R; Peyvandi, F; Mannucci, Pm; Duga, S
Characterization of the F11 alternative splicing pattern: identification of a novel coagulation FXI isoform
2007-01-01 Guella, I; Asselta, R; Rimoldi, V; Tenchini, Ml; Duga, S
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Opzioni
Scopri
Tipologia
- 1 Contributo su Rivista 68
- 1 Contributo su Rivista::1.5 Abst... 68
Data di pubblicazione
- 2010 - 2018 10
- 2000 - 2009 55
- 1998 - 1999 3
Editore
- Nature Publishing Group 4
- Blackwell 1
Rivista
- JOURNAL OF THROMBOSIS AND HAEMOST... 14
- EUROPEAN JOURNAL OF HUMAN GENETICS 11
- HAEMATOLOGICA 9
- BLOOD 8
- HAEMOPHILIA 7
- AMERICAN JOURNAL OF HUMAN GENETICS 3
- BLOOD TRANSFUSION 3
- THROMBOSIS AND HAEMOSTASIS 3
- CIRCULATION 2
- EUROPEAN JOURNAL OF CELL BIOLOGY 2
Lingua
- eng 65
Accesso al fulltext
- no fulltext 68