title: Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.
authors.affiliation: Institut für Humangenetik, RWTH Aachen, Aachen, Germany. teggermann@ukaachen.de
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
mesh_terms: D026923:Amino Acid Transport Systems, Basic / Q000235:genetics*; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D003555:Cystinuria / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009711:Nucleotides / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D026923:Amino Acid Transport Systems, Basic; D026921:Amino Acid Transport Systems, Neutral; D003062:Codon; D009711:Nucleotides; C489857:SLC3A1 protein, human