Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene

Journal of Cystic Fibrosis

Volumn 11, Issue 6, 2012, Pages 511-517

  Scott, Alexandra ^a   Petrykowska, Hanna M ^a   Hefferon, Timothy ^b   Gotea, Valer ^a   Elnitski, Laura ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Ectopic splice sites; Exon skipping; Minigene assay; SplicePort predictions; Synonymous substitution

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CFTR GENE; CONTROLLED STUDY; EXON; GENE; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MATHEMATICAL COMPUTING; MINIGENE SPLICING ASSAY; NONHUMAN; OPEN READING FRAME; PHENOTYPE; RNA SPLICING; SYNONYMOUS SUBSTITUTION;

ALTERNATIVE SPLICING; COMPUTATIONAL BIOLOGY; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; OPEN READING FRAMES; PHENOTYPE; PREDICTIVE VALUE OF TESTS; RNA PRECURSORS; RNA SPLICE SITES;

EID: 84869088202     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2012.04.009     Document Type: Article

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