Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia

Human Mutation

Volumn 28, Issue 1, 2007, Pages 41-53

  Ibrahim, El Chérif ^a,e   Hims, Matthew M ^b   Shomron, Noam ^c   Burge, Christopher B ^c   Slaugenhaupt, Susan A ^b,d   Reed, Robin ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^d Simches Research Center   (United States)

^e Mediterranée University   (France)

Author keywords

5 splice site; Exon skipping; Familial dysmitonomia; IKBKAP; RNA splicing

Indexed keywords

CYTOSINE; RNA POLYMERASE II; THYMINE;

ARTICLE; COMPUTER ANALYSIS; COMPUTER MODEL; COMPUTER PREDICTION; CONTROLLED STUDY; DNA FLANKING REGION; DYSAUTONOMIA; EXON; GENE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; IKBKAP GENE; IN VITRO RNA POLYMERASE II TRANSCRIPTION AND SPLICING ASSAY; INTRON; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SIGNAL PROCESSING; TRANSIENT TRANSFECTION;

ALTERNATIVE SPLICING; BASE SEQUENCE; CARRIER PROTEINS; CELL-FREE SYSTEM; CELLS, CULTURED; CLONING, MOLECULAR; COMPUTATIONAL BIOLOGY; DYSAUTONOMIA, FAMILIAL; EXONS; HUMANS; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDES; RNA POLYMERASE II; RNA SPLICE SITES; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 33846027506     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20401     Document Type: Article

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