title: Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
authors.affiliation: Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy. l.bisceglia@operapadrepio.it
authors.forename: Luigi
authors.initials: L
authors.lastname: Bisceglia
authors.forename: Michele
authors.initials: M
authors.lastname: Di Perna
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Zelante
mesh_terms: D026923:Amino Acid Transport Systems, Basic / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics*; D003555:Cystinuria / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D026923:Amino Acid Transport Systems, Basic; C499489:SLC7A9 protein, human