title: Novel human pathological 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: Eirini
authors.initials: E
authors.lastname: Louizou
authors.forename: Michele
authors.initials: M
authors.lastname: Di Perna
authors.forename: George
authors.initials: G
authors.lastname: Dedoussis
mesh_terms: D019943:Amino Acid Substitution; D026923:Amino Acid Transport Systems, Basic / Q000235:genetics*; D003062:Codon / Q000235:genetics; D003555:Cystinuria / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense
chemical_list: D026923:Amino Acid Transport Systems, Basic; D003062:Codon; C499489:SLC7A9 protein, human