title: Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.
authors.affiliation: Laboratoire de Biochimie Génétique, Centre National de la Recherche Scientifique URA1335 Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Aral
authors.forename: M
authors.initials: M
authors.lastname: Coudé
authors.forename: J
authors.initials: J
authors.lastname: London
authors.forename: J
authors.initials: J
authors.lastname: Aupetit
authors.forename: J F
authors.initials: JF
authors.lastname: Chassé
authors.forename: M T
authors.initials: MT
authors.lastname: Zabot
authors.forename: B
authors.initials: B
authors.lastname: Chadefaux-Vekemans
authors.forename: P
authors.initials: P
authors.lastname: Kamoun
mesh_terms: D002478:Cells, Cultured; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005347:Fibroblasts / Q000187:drug effects / Q000201:enzymology; D005602:France; D006712:Homocystinuria / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011736:Pyridoxine / Q000494:pharmacology*
chemical_list: D003541:Cystathionine beta-Synthase; D011736:Pyridoxine