Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells
Author:
Affiliation:
1. Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Campusvej 55, DK-5230 Odense M, Denmark
Funder
Natur og Univers, Det Frie Forskningsråd
Novo Nordisk Fonden (DK)
Publisher
Oxford University Press (OUP)
Subject
Genetics
Link
http://academic.oup.com/nar/article-pdf/46/15/7938/25690215/gky395.pdf
Reference49 articles.
1. Familial dysautonomia: detection of the IKBKAP IVS20(+6T → C) and R696P mutations and frequencies among Ashkenazi Jews;Dong;Am. J. Med. Genet.,2002
2. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia;Slaugenhaupt;Am. J. Hum. Genet.,2001
3. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia;Cuajungco;Am. J. Hum. Genet.,2003
4. Familial dysautonomia is caused by mutations of the IKAP gene;Anderson;Am. J. Hum. Genet.,2001
5. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression;Shapiro;Nucleic Acids Res.,1987
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