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Results: 1-7 |
Results: 7
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
Authors: Notorangelo, LD Mella, P Jones, A Baisle, GD Savoldi, G Cranston, T Vihinen, M Schumacher, RF
Citation: Ld. Notorangelo et al., Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency, HUM MUTAT, 18(4), 2001, pp. 255-263
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
Authors: Clementi, R zur Stadt, U Savoldi, G Varotto, S Conter, V De Fusco, C Notarangelo, LD Schneider, M Klersy, C Janka, G Danesino, C Arico, M
Citation: R. Clementi et al., Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis, J MED GENET, 38(9), 2001, pp. 643-646
Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency
Authors: Gilmour, KC Cranston, T Loughlin, S Gwyther, J Lester, T Espanol, T Hernandez, M Savoldi, G Davies, EG Abinun, M Kinnon, C Jones, A Gaspar, HB
Citation: Kc. Gilmour et al., Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency, BR J HAEM, 112(3), 2001, pp. 671-676
Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency
Authors: Vihinen, M Villa, A Mella, P Schumacher, RF Savoldi, G O'Shea, JJ Candotti, F Notarangelo, LD
Citation: M. Vihinen et al., Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency, CLIN IMMUNO, 96(2), 2000, pp. 108-118
Complete genomic organization of the human JAK3 gene and mutation analysisin severe combined immunodeficiency by single-strand conformation polymorphism
Authors: Schumacher, RF Mella, P Badolato, R Fiorini, M Savoldi, G Giliani, S Villa, A Candotti, F Tampalini, A O'Shea, JJ Notarangelo, LD
Citation: Rf. Schumacher et al., Complete genomic organization of the human JAK3 gene and mutation analysisin severe combined immunodeficiency by single-strand conformation polymorphism, HUM GENET, 106(1), 2000, pp. 73-79
Combined immunodeficiencies due to defects in signal transduction: Defectsof the gamma(c)-JAK3 signaling pathway as a model
Authors: Notarangelo, LD Giliani, S Mella, P Schumacher, RF Mazza, C Savoldi, G Rodriguez-Perez, C Badolato, R Mazzolari, E Porta, F Candotti, F Ugazio, AG
Citation: Ld. Notarangelo et al., Combined immunodeficiencies due to defects in signal transduction: Defectsof the gamma(c)-JAK3 signaling pathway as a model, IMMUNOBIOL, 202(2), 2000, pp. 106-119
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model
Authors: Notarangelo, LD Giliani, S Mazza, C Mella, P Savoldi, G Rodriguez-Perez, C Mazzolari, E Fiorini, M Duse, M Plebani, A Ugazio, AG Vihinen, M Candotti, F Schumacher, RF
Citation: Ld. Notarangelo et al., Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model, IMMUNOL REV, 178, 2000, pp. 39-48
Risultati: 1-7 |