title: Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.
authors.affiliation: FG, IRCCS Casa Sollievo della Sofferenza, UO Genetica Medica, San Giovanni Rotondo, Italy. l.bisceglia@operapadrepio.it
authors.forename: Luigi
authors.initials: L
authors.lastname: Bisceglia
authors.forename: Lucia
authors.initials: L
authors.lastname: Fischetti
authors.forename: Patrizia
authors.initials: P
authors.lastname: De Bonis
mesh_terms: D026923:Amino Acid Transport Systems, Basic / Q000235:genetics*; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D001483:Base Sequence; D003555:Cystinuria / Q000235:genetics*; D005091:Exons; D006579:Heterozygote; D006801:Humans; D007558:Italy; D017384:Sequence Deletion
chemical_list: D026923:Amino Acid Transport Systems, Basic; D026921:Amino Acid Transport Systems, Neutral; C489857:SLC3A1 protein, human