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