Genomic variants in exons and introns: identifying the splicing spoilers
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg1327.pdf
Reference63 articles.
1. Thude, H., Hundrieser, J., Wonigeit, K. & Schwinzer, R. A point mutation in the human CD45 gene associated with defective splicing of exon A. Eur. J. Immunol. 25, 2101–2106 (1995).
2. Varani, L. et al. Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc. Natl Acad. Sci. USA 96, 8229–8234 (1999).
3. Ars, E. et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum. Mol. Genet. 9, 237–247 (2000).
4. Teraoka, S. N. et al. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am. J. Hum. Genet. 64, 1617–1631 (1999).
5. Pagani, F. et al. New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum. Mol. Genet. 12, 1111–1120 (2003).
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