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: D000595:Amino Acid Sequence / Q000235:genetics; D026923:Amino Acid Transport Systems, Basic / Q000235:genetics*; D003062:Codon / Q000235:genetics; D003555:Cystinuria / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: D026923:Amino Acid Transport Systems, Basic; D003062:Codon; C499489:SLC7A9 protein, human