Molecular defect in a patient with pyridoxine-responsive homocystinuria.
Kozich
V
V
Department of Pediatrics, University of Colorado School of Medicine, Denver 80262.
de Franchis
R
R
Kraus
J P
JP
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
D011993:Recombinant Fusion Proteins; D003541:Cystathionine beta-Synthase