Non-type I cystinuria caused by mutations in SLC7A9 , encoding a subunit (b o,+ AT) of rBAT
Ballabio, Andrea, Beccia, Ercole, Borsani, Giuseppe, Aksentijevich, Ivona, Rizzoni, Gian Franco, Pineda, Marta, Estivill, Xavier, Bassi, Maria Teresa, Goldman, Boleslaw, Centola, Michael, Torrents, David, Endsley, John K, Kreiss, Yitshak, Camps, Marta, Palacín, Manuel, Nunes, Virginia, Feliubadaló, Lídia, Pras, Elon, Kastner, Daniel L, Lloberas, Jorge, Zorzano, Antonio, Ponzone, Alberto, de Sanctis, Luisa, Golomb, Eliahu, Reig, Núria, Rousaud, Ferran, George Jr, Alfred L, Bisceglia, Luigi, Font, Mariona, Gallucci, Michele, Manzoni, Marta, Estévez, Raúl, Purroy, Jesús, Pras, Mordechai, Riboni, Mirko, Zelante, Leopoldo, Gasparini, Paolo, Fernández, Esperanza, De Grandi, Alessandro
Published in Nature genetics (01.09.1999)
Published in Nature genetics (01.09.1999)
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Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria
Endsley, John K., Phillips, John A., Hruska, Keith A., Denneberg, Torsten, Carlson, Joyce, George, Alfred L.
Published in Kidney international (01.06.1997)
Published in Kidney international (01.06.1997)
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