Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis

Genetics in Medicine

Volumn 17, Issue 10, 2015, Pages 796-806

  Bonini, Jennifer ^a,b   Varilh, Jessica ^a,c   Raynal, Caroline ^a,c   Thèze, Corinne ^a,c   Beyne, Emmanuelle ^a,c   Audrezet, Marie Pierre ^d   Ferec, Claude ^d   Bienvenu, Thierry ^e   Girodon, Emmanuelle ^e   Tuffery Giraud, Sylvie ^a,b   Des Georges, Marie ^a,c   Claustres, Mireille ^a,b   Taulan Cadars, Magali ^a,b  

^a UNIVERSITÉ DE MONTPELLIER   (France)

^b UNIV MONTPELLIER   (France)

^c MONTPELLIER UNIVERSITY HOSPITAL   (France)

^d BREST UNIVERSITY HOSPITAL   (France)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

antisense oligonucleotides; cystic fibrosis; intronic mutation; next generation sequencing; pseudoexon skipping

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; OLIGONUCLEOTIDE;

ARTICLE; BIOINFORMATICS; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; CYSTIC FIBROSIS; DATA ANALYSIS; EXON; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENE TARGETING; GENETIC ANALYSIS; GENETIC TRANSFECTION; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; HYBRID CAPTURE POLYMERASE CHAIN REACTION; LONG RANGE POLYMERASE CHAIN REACTION; NEXT GENERATION SEQUENCING; PATHOGENESIS; PIPELINE; POLYMERASE CHAIN REACTION; ALTERNATIVE RNA SPLICING; BIOLOGY; CELL LINE; CHEMISTRY; CHROMOSOME 7; CHROMOSOME MAP; GENE EXPRESSION; GENE LOCUS; GENE ORDER; GENETICS; INTRON; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; POSITION WEIGHT MATRIX; PROCEDURES; REPORTER GENE; SEQUENCE ALIGNMENT; TARGETED GENE REPAIR;

ALTERNATIVE SPLICING; BASE SEQUENCE; CELL LINE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; COMPUTATIONAL BIOLOGY; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EXONS; GENE EXPRESSION; GENE ORDER; GENES, REPORTER; GENETIC LOCI; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POSITION-SPECIFIC SCORING MATRICES; SEQUENCE ALIGNMENT; TARGETED GENE REPAIR;

EID: 84943246676     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.194     Document Type: Article

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