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Results: 1-3 |
Results: 3

Authors: Bisceglia, L Purroy, J Jimenez-Vidal, M d'Adamo, AP Rousaud, F Beccia, E Penza, R Rizzoni, G Gallucci, M Palacin, M Gasparini, P Nunes, V Zelante, L
Citation: L. Bisceglia et al., Cystinuria type I: Identification of eight new mutations in SLC3A1, KIDNEY INT, 59(4), 2001, pp. 1250-1256

Authors: Purroy, J Bisceglia, L Jaeken, J Gasparini, P Palacin, M Nunes, V
Citation: J. Purroy et al., Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR, HUM MUTAT, 15(4), 2000, pp. 373-379

Authors: Feliubadalo, L Font, M Purroy, J Rousaud, F Estivill, X Nunes, V Golomb, E Centola, M Aksentijevich, I Kreiss, Y Goldman, B Pras, M Kastner, DL Pras, E Gasparini, P Bisceglia, L Beccia, E Gallucci, M de Sanctis, L Ponzone, A Rizzoni, GF Zelante, L Bassi, MT George, AL Manzoni, M De Grandi, A Riboni, M Endsley, JK Ballabio, A Borsani, G Reig, N Fernandez, E Estevez, R Pineda, M Torrents, D Camps, M Lloberas, J Zorzano, A Palacin, M
Citation: L. Feliubadalo et al., Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT, NAT GENET, 23(1), 1999, pp. 52-57
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