Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: Identification of seven novel mutations

Molecular Genetics and Metabolism

Volumn 90, Issue 3 SPEC. ISS., 2007, Pages 284-290

  Lempp, Thomas J ^a   Suormala, Terttu ^b   Siegenthaler, Renate ^a   Baumgartner, E Regula ^b   Fowler, Brian ^b   Steinmann, Beat ^a   Baumgartner, Matthias R ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Methylmalonic acid; Methylmalonyl CoA mutase; MUT; Organic aciduria

Indexed keywords

METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE;

ACIDURIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

URIA;

EID: 33846895127     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.10.002     Document Type: Article

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