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Results: 1-8 |
Results: 8
The mutational spectrum of human malignant autosomal recessive osteopetrosis
Authors: Sobacchi, C Frattini, A Orchard, P Porras, O Tezcan, I Andolina, M Babul-Hirji, R Baric, I Canham, N Chitayat, D Dupuis-Girod, S Ellis, I Etzioni, A Fasth, A Fisher, A Gerritsen, B Gulino, V Horwitz, E Klamroth, V Lanino, E Mirolo, M Musio, A Matthijs, G Nonomaya, S Notarangelo, LD Ochs, HD Furga, AS Valiaho, J van Hove, JLK Vihinen, M Vujic, D Vezzoni, P Villa, A
Citation: C. Sobacchi et al., The mutational spectrum of human malignant autosomal recessive osteopetrosis, HUM MOL GEN, 10(17), 2001, pp. 1767-1773
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations
Authors: Villa, A Sobacchi, C Notarangelo, LD Bozzi, F Abinun, M Abrahamsen, TG Arkwright, PD Baniyash, M Brooks, EG Conley, ME Cortes, P Duse, M Fasth, A Filipovich, AM Infante, AJ Jones, A Mazzolari, E Muller, SM Pasic, S Rechavi, G Sacco, MG Santagata, S Schroeder, ML Seger, R Strina, D Ugazio, A Valiaho, J Vihinen, M Vogler, LB Ochs, H Vezzoni, P Friedrich, W Schwarz, K
Citation: A. Villa et al., V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations, BLOOD, 97(1), 2001, pp. 81-88
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
Authors: Frattini, A Orchard, PJ Sobacchi, C Giliani, S Abinun, M Mattsson, JP Keeling, DJ Andersson, AK Wallbrandt, P Zecca, L Notarangelo, LD Vezzoni, P Villa, A
Citation: A. Frattini et al., Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis, NAT GENET, 25(3), 2000, pp. 343-346
Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies
Authors: Gomez, CA Ptaszek, LM Villa, A Bozzi, F Sobacchi, C Brooks, EG Notarangelo, LD Spanopoulou, E Pan, ZQ Vezzoni, P Cortes, P Santagata, S
Citation: Ca. Gomez et al., Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies, MOL CELL B, 20(15), 2000, pp. 5653-5664
Prenatal diagnosis of RAG-deficient Omenn syndrome
Authors: Villa, A Bozzi, F Sobacchi, C Strina, D Fasth, A Pasic, S Notarangelo, LD Vezzoni, P
Citation: A. Villa et al., Prenatal diagnosis of RAG-deficient Omenn syndrome, PRENAT DIAG, 20(1), 2000, pp. 56-59
The genetic and biochemical basis of Omenn syndrome
Authors: Santagata, S Villa, A Sobacchi, C Cortes, P Vezzoni, P
Citation: S. Santagata et al., The genetic and biochemical basis of Omenn syndrome, IMMUNOL REV, 178, 2000, pp. 64-74
N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains
Authors: Santagata, S Gomez, CA Sobacchi, C Bozzi, F Abinun, M Pasic, S Cortes, P Vezzoni, P Villa, A
Citation: S. Santagata et al., N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains, P NAS US, 97(26), 2000, pp. 14572-14577
The RAG1/RAG2 complex constitutes a 3 ' flap endonuclease: Implications for junctional diversity in V(D)J and transpositional recombination
Authors: Santagata, S Besmer, E Villa, A Bozzi, F Allingham, JS Sobacchi, C Haniford, DB Vezzoni, P Nussenzweig, MC Pan, ZQ Cortes, P
Citation: S. Santagata et al., The RAG1/RAG2 complex constitutes a 3 ' flap endonuclease: Implications for junctional diversity in V(D)J and transpositional recombination, MOL CELL, 4(6), 1999, pp. 935-947
Risultati: 1-8 |