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Results: 1-8 |
Results: 8
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
Authors: Font, M Feliubadalo, L Estivill, X Nunes, V Golomb, E Kreiss, Y Pras, E Bisceglia, L d'Adamo, AP Zelante, L Gasparini, P Bassi, MT George, AL Manzoni, M Riboni, M Ballabio, A Borsani, G Reig, N Fernandez, E Zorzano, A Bertran, J Palacin, M
Citation: M. Font et al., Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria, HUM MOL GEN, 10(4), 2001, pp. 305-316
Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system x(c)(-)
Authors: Bassi, MT Gasol, E Manzoni, M Pineda, M Riboni, M Martin, R Zorzano, A Borsani, G Palacin, M
Citation: Mt. Bassi et al., Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system x(c)(-), PFLUG ARCH, 442(2), 2001, pp. 286-296
Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane
Authors: Monti, E Bassi, MT Papini, N Riboni, M Manzoni, M Venerando, B Croci, G Preti, A Ballabio, A Tettamanti, G Borsani, G
Citation: E. Monti et al., Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane, BIOCHEM J, 349, 2000, pp. 343-351
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
Authors: Sperandeo, MP Bassi, MT Riboni, M Parenti, G Buoninconti, A Manzoni, M Incerti, B Larocca, MR Di Rocco, M Strisciuglio, P Dianzani, I Parini, R Candito, M Endo, F Ballabio, A Andria, G Sebastio, G Borsani, G
Citation: Mp. Sperandeo et al., Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance, AM J HU GEN, 66(1), 2000, pp. 92-99
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT
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
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
Authors: Borsani, G Bassi, MT Sperandeo, MP De Grandi, A Buoninconti, A Riboni, M Manzoni, M Incerti, B Pepe, A Andria, G Ballabio, A Sebastio, G
Citation: G. Borsani et al., SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance, NAT GENET, 21(3), 1999, pp. 297-301
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family
Authors: Bassi, MT Sperandeo, MP Incerti, B Bulfone, A Pepe, A Surace, EM Gattuso, C De Grandi, A Buoninconti, A Riboni, M Manzoni, M Andria, G Ballabio, A Borsani, G Sebastio, G
Citation: Mt. Bassi et al., SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family, GENOMICS, 62(2), 1999, pp. 297-303
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats
Authors: Bassi, MT Ramesar, RS Caciotti, B Winship, IM De Grandi, A Riboni, M Townes, PL Beighton, P Ballabio, A Borsani, G
Citation: Mt. Bassi et al., X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats, AM J HU GEN, 64(6), 1999, pp. 1604-1616
Risultati: 1-8 |