Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia

Human Mutation

Volumn 33, Issue 6, 2012, Pages 973-980

  Sánchez Alcudia, Rocío ^a   Pérez, Belén ^a   Ugarte, Magdalena ^a   Desviat, Lourdes R ^a  

^a CSIC   (Spain)

Author keywords

Aminoglycosides; Ataluren; Nonsense mutations; Pcca; Pccb

Indexed keywords

ANTIBIOTIC G 418; ATALUREN; CAFFEINE; GENTAMICIN; MESSENGER RNA; PROPIONYL COENZYME A CARBOXYLASE; PROPIONYL COENZYME B CARBOXYLASE; UNCLASSIFIED DRUG; WORTMANNIN;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; CELL CULTURE; CODON; COMPUTER MODEL; CONTROLLED STUDY; FEASIBILITY STUDY; FIBROBLAST; GENE SEQUENCE; GENETIC CODE; HUMAN; HUMAN CELL; IN VITRO STUDY; MAJOR CLINICAL STUDY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PREMATURE TERMINATION CODON; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PROTEIN FUNCTION;

AMINOGLYCOSIDES; CODON; CODON, NONSENSE; COHORT STUDIES; EXONS; FIBROBLASTS; HUMANS; METHYLMALONYL-COA DECARBOXYLASE; MUTATION, MISSENSE; PROPIONIC ACIDEMIA;

EID: 84865156597     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22047     Document Type: Article

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