title: Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.
authors.affiliation: Dept de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Pérez-Cerdá
authors.forename: P
authors.initials: P
authors.lastname: Rodríguez-Pombo
authors.forename: M
authors.initials: M
authors.lastname: Ugarte
mesh_terms: D000483:Alleles; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D002262:Carboxy-Lyases / Q000172:deficiency*; D004252:DNA Mutational Analysis; D006801:Humans; D043586:Methylmalonyl-CoA Decarboxylase; D016133:Polymerase Chain Reaction; D011422:Propionates / Q000097:blood*; D017384:Sequence Deletion; D013030:Spain
chemical_list: D011422:Propionates; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase