Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Bisceglia
Luigi
L
Servizio di Genetica Medica, IRCCS Casa Solli evo della, Sofferenza, FG, Viale Padre Pio 1, 71013, San Giovanni Rotondo, Italy. l.bisceglia@operapadrepio.it
Fischetti
Lucia
L
De Bonis
Patrizia
P
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*
D026923:Amino Acid Transport Systems, Basic; D003062:Codon; C499489:SLC7A9 protein, human