Functional correction by antisense therapy of a splicing mutation in the GALT gene

European Journal of Human Genetics

Volumn 23, Issue 4, 2015, Pages 500-506

  Coelho, Ana I ^a   Lourenço, Sílvia ^a   Trabuco, Matilde ^a   Silva, Maria João ^a   Oliveira, Anabela ^b   Gaspar, Ana ^b   Diogo, Luísa ^c   Tavares De Almeida, Isabel ^a   Vicente, João B ^a   Rivera, Isabel ^a  

^a RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

^b HOSPITAL DE SANTA MARIA   (Portugal)

^c CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; LOCKED NUCLEIC ACID; MESSENGER RNA PRECURSOR; OLIGONUCLEOTIDE; RECOMBINANT ENZYME; RECOMBINANT GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; UNCLASSIFIED DRUG; COMPLEMENTARY DNA; HEXOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; MESSENGER RNA; RNA PRECURSOR; RNA SPLICING;

ALTERNATIVE RNA SPLICING; ANTISENSE THERAPY; ARTICLE; CELL LINE; CONTROLLED STUDY; COS 7 CELL LINE; ENZYME ACTIVITY; EX VIVO STUDY; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC VARIABILITY; HELA CELL LINE; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; INTRON; MOLECULAR GENETICS; PRIORITY JOURNAL; PROTEIN AGGREGATION; SITE DIRECTED MUTAGENESIS; STOP CODON; TRANSCRIPTION INITIATION; WILD TYPE; ANIMAL; CASE CONTROL STUDY; CHLOROCEBUS AETHIOPS; CIRCULAR DICHROISM; COS 1 CELL LINE; DNA FRAGMENTATION; DNA SEQUENCE; GALACTOSEMIAS; GENETIC SCREENING; GENETIC VARIATION; GENETICS; MUTATION; RNA SPLICING;

ANIMALS; CASE-CONTROL STUDIES; CERCOPITHECUS AETHIOPS; CIRCULAR DICHROISM; COS CELLS; DNA FRAGMENTATION; DNA, ANTISENSE; GALACTOSEMIAS; GENETIC TESTING; GENETIC VARIATION; HELA CELLS; HUMANS; INTRONS; MUTATION; OLIGONUCLEOTIDES; RNA PRECURSORS; RNA SPLICE SITES; RNA SPLICING; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 84924662463     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.149     Document Type: Article

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