title: Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.
authors.affiliation: Obstetrics and Gynecology, Ioannina University, Genetics Unit, Ioannina, Greece. chatzikyra@email.com
authors.forename: Anthoula
authors.initials: A
authors.lastname: Chatzikyriakidou
authors.forename: K D
authors.initials: KD
authors.lastname: Kollios
authors.forename: I
authors.initials: I
authors.lastname: Georgiou
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 / Q000235:genetics*; D004252:DNA Mutational Analysis; D006115:Greece; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*
chemical_list: D026923:Amino Acid Transport Systems, Basic; D026921:Amino Acid Transport Systems, Neutral; D003062:Codon; D009711:Nucleotides; C489857:SLC3A1 protein, human