Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut° and mut- forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene

Human Mutation

Volumn 25, Issue 2, 2005, Pages 167-176

  Acquaviva, Cécile ^a   Benoist, Jean François ^a   Pereira, Sabrina ^a   Callebaut, Isabelle ^b   Koskas, Thu ^a   Porquet, Dominique ^a   Elion, Jacques ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b SORBONNE UNIVERSITÉ   (France)

Author keywords

MCM; Methylmalonic acidemia; Methylmalonyl CoA mutase; MMA; MUT; Mutations

Indexed keywords

APOENZYME; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE;

AMINO ACID SEQUENCE; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MAPPING; HUMAN; METHYLMALONIC ACIDURIA; MISSENSE MUTATION; MUT GENE; MUTATION RATE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

AMINO ACID METABOLISM, INBORN ERRORS; APOENZYMES; BASE SEQUENCE; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EUROPE; FRAMESHIFT MUTATION; HUMANS; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 13444281894     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20128     Document Type: Article

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