Propionic acidemia: Identification of twenty-four novel mutations in Europe and North America

Molecular Genetics and Metabolism

Volumn 78, Issue 1, 2003, Pages 59-67

  Perez B ^a   Desviat, L R ^a   Rodriguez Pombo P ^a   Clavero, S ^a   Navarrete, R ^a   Perez Cerda C ^a   Ugarte, M ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Mutations; PCCA; PCCB; Propionic acidemia

Indexed keywords

NUCLEOTIDE; PROPIONYL COENZYME A CARBOXYLASE;

ALPHA CHAIN; ARTICLE; AUSTRIA; BELGIUM; BETA CHAIN; CONTROLLED STUDY; CROATIA; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; ITALY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; RNA SPLICING; SPAIN; UNITED STATES;

ALTERNATIVE SPLICING; AUSTRIA; BASE SEQUENCE; BELGIUM; CARBOXY-LYASES; CODON, NONSENSE; CROATIA; DNA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; HUMANS; ISOENZYMES; ITALY; METABOLISM, INBORN ERRORS; METHYLMALONYL-COA DECARBOXYLASE; MITOCHONDRIA; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; NORTH AMERICA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPIONIC ACIDS; PROTEIN SUBUNITS; SEQUENCE DELETION; SPAIN;

EID: 0037288237     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00197-X     Document Type: Article

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