Functional characterization and categorization of missense mutations that cause methylmalonyl-coA mutase (MUT) deficiency

Human Mutation

Volumn 35, Issue 12, 2014, Pages 1449-1458

  Forny, Patrick ^a,b   Froese, D Sean ^a,c   Suormala, Terttu ^a   Yue, Wyatt W ^c   Baumgartner, Matthias R ^a,b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Cobalamin; Methylmalonic aciduria; Methylmalonyl CoA mutase; MUT; Thermolability

Indexed keywords

METHYLMALONYL COENZYME A MUTASE; PRIMER DNA;

DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETICS; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; WESTERN BLOTTING;

AMINO ACID METABOLISM, INBORN ERRORS; BASE SEQUENCE; BLOTTING, WESTERN; DNA PRIMERS; HUMANS; METHYLMALONYL-COA MUTASE; MUTATION, MISSENSE;

EID: 84911405480     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22633     Document Type: Article

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