title: A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy.
authors.forename: Elena
authors.initials: E
authors.lastname: Cardaioli
authors.forename: Francesco
authors.initials: F
authors.lastname: Sicurelli
authors.forename: Maria Alessandra
authors.initials: MA
authors.lastname: Carluccio
authors.forename: Gian Nicola
authors.initials: GN
authors.lastname: Gallus
authors.forename: Paola
authors.initials: P
authors.lastname: Da Pozzo
authors.forename: Mauro
authors.initials: M
authors.lastname: Mondelli
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Margollicci
authors.forename: Vanna
authors.initials: V
authors.lastname: Micheli
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
mesh_terms: D000063:Accidents, Traffic; D000595:Amino Acid Sequence; D001921:Brain / Q000473:pathology; D004247:DNA / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005767:Gastrointestinal Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D017237:Mitochondrial Encephalomyopathies / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D009154:Mutation; D010292:Paresthesia / Q000209:etiology; D010441:Peptide Chain Elongation, Translational / Q000235:genetics / Q000502:physiology; D013939:Thymidine Phosphorylase / Q000235:genetics* / Q000502:physiology*; D055815:Young Adult
chemical_list: D004247:DNA; D013939:Thymidine Phosphorylase