Combined Computational-Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level

Human Mutation

Volumn 34, Issue 6, 2013, Pages 873-881

  Aissat, Abdel ^a,b   de Becdelièvre, Alix ^a,b,c   Golmard, Lisa ^a,b   Vasseur, Christian ^c   Costa, Catherine ^a,c   Chaoui, Asma ^a   Martin, Natacha ^a   Costes, Bruno ^a,b   Goossens, Michel ^a,b,c   Girodon, Emmanuelle ^a,c   Fanen, Pascale ^a,b,c   Hinzpeter, Alexandre ^a,b  

^a INSERM U955   (France)

^b UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^c HENRI MONDOR HOSPITAL   (France)

Author keywords

Alternative splicing; CFTR; Cystic fibrosis; Exon skipping; Unclassified variant

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; PROTEIN SF2; SERINE ARGININE RICH PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; COMPUTER MODEL; EXON; EXON SKIPPING; GENETIC VARIABILITY; MISSENSE MUTATION; MOLECULAR MECHANICS; PRIORITY JOURNAL; RNA SPLICING; SUBSTITUTION REACTION;

ALTERNATIVE SPLICING; COMPUTATIONAL BIOLOGY; COMPUTER SIMULATION; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EXONS; HUMANS; MODELS, BIOLOGICAL; MUTATION, MISSENSE; NUCLEAR PROTEINS; REGULATORY SEQUENCES, NUCLEIC ACID; RNA-BINDING PROTEINS; TRANSCRIPTION, GENETIC;

EID: 84878162009     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22300     Document Type: Article

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