Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)

Human Mutation

Volumn 30, Issue 12, 2009, Pages 1676-1682

  Perez B ^a,b   Rincon A ^a,b   Jorge Finnigan, A ^a,b   Richard, E ^a,b   Merinero, B ^a,b   Ugarte, M ^a,b   Desviat, L R ^a,b  

^a CSIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Antisense therapy; Dendrimers; Intronic mutations; Methylmalonic acidemia; Methylmalonyl CoA mutase; MUT

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; MESSENGER RNA PRECURSOR; METHYLMALONYL COENZYME A MUTASE; NUCLEOTIDE;

ANTISENSE THERAPY; ARTICLE; EXON; GENE INSERTION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTRON; METHYLMALONIC ACIDURIA; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; RNA SPLICING; TREATMENT RESPONSE;

BASE SEQUENCE; CELL LINE; EXONS; GENOTYPE; HUMANS; INTRONS; METABOLISM, INBORN ERRORS; METHYLMALONYL-COA MUTASE; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDES, ANTISENSE; PHENOTYPE; PROPIONIC ACIDS; RNA SPLICING;

EID: 71849091186     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21118     Document Type: Article

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