title: Molecular defect in a patient with pyridoxine-responsive homocystinuria.
authors.affiliation: Department of Pediatrics, University of Colorado School of Medicine, Denver 80262.
authors.forename: V
authors.initials: V
authors.lastname: Kozich
authors.forename: R
authors.initials: R
authors.lastname: de Franchis
authors.forename: J P
authors.initials: JP
authors.lastname: Kraus
mesh_terms: D000328:Adult; D001483:Base Sequence; D015153:Blotting, Western; D002460:Cell Line; D003001:Cloning, Molecular; D003541:Cystathionine beta-Synthase / Q000172:deficiency / Q000235:genetics; D004926:Escherichia coli; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006712:Homocystinuria / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D011993:Recombinant Fusion Proteins / Q000235:genetics
chemical_list: D011993:Recombinant Fusion Proteins; D003541:Cystathionine beta-Synthase