Showing results (11-20 of 56) with videos related to
Sort By:
Pageof 6
Blood|February 9, 2000
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretionS Duga, R Asselta, E Santagostino, et al.Journal of Thrombosis and Haemostasis : JTH|April 22, 2005
Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen vs. the ERSD-associated gamma-G284R mutantS Duga, P Braidotti, R Asselta, et al.British Journal of Haematology|February 13, 2001
A novel two base pair deletion in the factor V gene associated with severe factor V deficiencyM C Montefusco, S Duga, R Asselta, et al.Blood|September 26, 2000
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncationR Asselta, S Duga, T Simonic, et al.Molecular and Cellular Probes|November 25, 2000
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat markerM T Bonati, S Duga, R Asselta, et al.Neuroreport|August 3, 2000
Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLEM T Bonati, R Asselta, S Duga, et al.Sleep|August 18, 1999
SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE populationM L Tenchini, S Duga, M T Bonati, et al.British Journal of Haematology|September 21, 2001
Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiencyR van Wijk, M C Montefusco, S Duga, et al.Blood|December 12, 2001
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAsR Asselta, S Duga, S Spena, et al.Pageof 6