ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:470
Internal ref. ID:
Submitter name:ELEANOR WHITFIELD
Entry date:11-OCT-2006 17:51:05
 
Regulatory sequence name:cftr, exon 12
Entry type:Exon enhancer
Sequence origin:Exonic
Organism:Homo sapiens, human
Binding factors:SFRS1 (SF2/ASF)
 
EMBL/Genbank/DDBJ/RefSeq Accession number:M28668
Ensembl ID:ENSG00000001626
AEdb ID:1459
Sequence:GGATAC
Mutated regulatory sequence:
 
Methods:In vitro splicing assay
Mutagenesis
Keywords:
 
Citation line:New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12., Hum Mol Genet. (2003) 12:1111-20
PubMed ID:12719375
 
Comments:
(activated in workbench):N
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