Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Bisceglia
Luigi
L
Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy. l.bisceglia@operapadrepio.it
Di Perna
Michele
M
Zelante
Leopoldo
L
D000595:Amino Acid Sequence; D026923:Amino Acid Transport Systems, Basic / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics*; D003062:Codon / Q000235:genetics; D003555:Cystinuria / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*
D026923:Amino Acid Transport Systems, Basic; D003062:Codon; C499489:SLC7A9 protein, human