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Results: 1-12 |
Results: 12
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms
Authors: Duga, S Solda, G Asselta, R Bonati, MT Dalpra, L Malcovati, M Tenchini, ML
Citation: S. Duga et al., Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms, J HUM GENET, 46(11), 2001, pp. 640-648
Identification of four novel polymorphisms in the A alpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein
Authors: Menegatti, M Asselta, R Duga, S Malcovati, M Bucciarelli, P Mannucci, PM Tenchini, ML
Citation: M. Menegatti et al., Identification of four novel polymorphisms in the A alpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein, THROMB RES, 103(4), 2001, pp. 299-307
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 deficiency
Authors: van Wijk, R Montefusco, MC Duga, S Asselta, R van Solinge, W Malcovati, M Tenchini, ML Mannucci, PM
Citation: R. Van Wijk et al., 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 deficiency, BR J HAEM, 114(4), 2001, pp. 871-874
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs
Authors: Asselta, R Duga, S Spena, S Santagostino, E Peyvandi, F Piseddu, G Targhetta, R Malcovati, M Mannucci, PM Tenchini, ML
Citation: R. Asselta et al., Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs, BLOOD, 98(13), 2001, pp. 3685-3692
Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE
Authors: Bonati, MT Asselta, R Duga, S Ferini-Strambi, L Oldani, A Zucconi, M Malcovati, M Dalpra, L Tenchini, ML
Citation: Mt. Bonati et al., Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE, NEUROREPORT, 11(10), 2000, pp. 2097-2101
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker
Authors: Bonati, MT Duga, S Asselta, R Ferini-Strambi, L Oldani, A Zucconi, M Malcovati, M Dalpra, L Tenchini, ML
Citation: Mt. Bonati et al., A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker, MOL CELL PR, 14(6), 2000, pp. 373-380
The intron-containing L3 ribosomal protein gene (RPL3): sequence analysis and identification of U43 and of two novel intronic small nucleolar RNAs
Authors: Duga, S Asselta, R Malcovati, M Tenchini, ML Ronchi, S Simonic, T
Citation: S. Duga et al., The intron-containing L3 ribosomal protein gene (RPL3): sequence analysis and identification of U43 and of two novel intronic small nucleolar RNAs, BBA-GENE ST, 1490(3), 2000, pp. 225-236
A novel two base pair deletion in the factor V gene associated with severefactor V deficiency
Authors: Montefusco, MC Duga, S Asselta, R Santagostino, E Mancuso, G Malcovati, M Mannucci, PM Tenchini, ML
Citation: Mc. Montefusco et al., A novel two base pair deletion in the factor V gene associated with severefactor V deficiency, BR J HAEM, 111(4), 2000, pp. 1240-1246
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation
Authors: Asselta, R Duga, S Simonic, T Malcovati, M Santagostino, E Giangrande, PLF Mannucci, PM Tenchini, ML
Citation: R. Asselta et al., Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation, BLOOD, 96(7), 2000, pp. 2496-2500
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion
Authors: Duga, S Asselta, R Santagostino, E Zeinali, S Simonic, T Malcovati, M Mannucci, PM Tenchini, ML
Citation: S. Duga et al., Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion, BLOOD, 95(4), 2000, pp. 1336-1341
SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the ItalianADNFLE population
Authors: Tenchini, ML Duga, S Bonati, MT Asselta, R Oldani, A Zucconi, M Malcovati, M Dalpra, L Ferini-Strambi, L
Citation: Ml. Tenchini et al., SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the ItalianADNFLE population, SLEEP, 22(5), 1999, pp. 637-639
A new exon in the 5 ' untranslated region of the connexin32 gene
Authors: Duga, S Asselta, R Del Giacco, L Malcovati, M Ronchi, S Tenchini, ML Simonic, T
Citation: S. Duga et al., A new exon in the 5 ' untranslated region of the connexin32 gene, EUR J BIOCH, 259(1-2), 1999, pp. 188-196
Risultati: 1-12 |