title: A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient.
authors.affiliation: Hôpital Debrousse, Lyon, France.
authors.forename: R L
authors.initials: RL
authors.lastname: Touraine
authors.forename: M O
authors.initials: MO
authors.lastname: Rolland
authors.forename: P
authors.initials: P
authors.lastname: Divry
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: P
authors.initials: P
authors.lastname: Guibaud
authors.forename: D
authors.initials: D
authors.lastname: Bozon
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000032:analysis; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D004247:DNA; D008765:Methylmalonyl-CoA Mutase