title: Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency.
authors.affiliation: Molecular Genetic Laboratory, University Department of Clinical Chemistry, Aarhus Kommunehospital, Denmark.
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
authors.forename: B S
authors.initials: BS
authors.lastname: Andresen
authors.forename: P
authors.initials: P
authors.lastname: Bross
authors.forename: V
authors.initials: V
authors.lastname: Winter
authors.forename: N
authors.initials: N
authors.lastname: Rüdiger
authors.forename: S
authors.initials: S
authors.lastname: Engst
authors.forename: S
authors.initials: S
authors.lastname: Ghisla
authors.forename: E
authors.initials: E
authors.lastname: Christensen
authors.forename: D
authors.initials: D
authors.lastname: Kelly
authors.forename: A W
authors.initials: AW
authors.lastname: Strauss
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D001483:Base Sequence; D015152:Blotting, Northern; D015153:Blotting, Western; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D012333:RNA, Messenger; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase