FRA, ANNAMARIA
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Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population
2019 Laffranchi, M.; Elliston, E. L. K.; Gangemi, F.; Berardelli, R.; Lomas, D. A.; Irving, J. A.; Fra, A.
Heteropolymerization of α-1-antitrypsin mutants in cell models mimicking heterozygosity
2018 Laffranchi, Mattia; Berardelli, Romina; Ronzoni, Riccardo; Lomas, David A; Fra, Annamaria
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency
2018 Giacopuzzi, Edoardo; Laffranchi, Mattia; Berardelli, Romina; Ravasio, Viola; Ferrarotti, Ilaria; Gooptu, Bibek; Borsani, Giuseppe; Fra, Annamaria
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population | 2019 | Laffranchi, M.; Elliston, E. L. K.; Gangemi, F.; Berardelli, R.; Lomas, D. A.; Irving, J. A.; Fra, A. | |
Heteropolymerization of α-1-antitrypsin mutants in cell models mimicking heterozygosity | 2018 | Laffranchi, Mattia; Berardelli, Romina; Ronzoni, Riccardo; Lomas, David A; Fra, Annamaria | |
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency | 2018 | Giacopuzzi, Edoardo; Laffranchi, Mattia; Berardelli, Romina; Ravasio, Viola; Ferrarotti, Ilaria; Gooptu, Bibek; Borsani, Giuseppe; Fra, Annamaria |