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Comprehensive splice-site analysis using comparative genomics.
Sheth N, Roca X, Hastings ML, Roeder T, Krainer AR, Sachidanandam R. Sheth N, et al. Among authors: krainer ar. Nucleic Acids Res. 2006;34(14):3955-67. doi: 10.1093/nar/gkl556. Epub 2006 Aug 12. Nucleic Acids Res. 2006. PMID: 16914448 Free PMC article.
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS. Nielsen KB, et al. Among authors: krainer ar. Am J Hum Genet. 2007 Mar;80(3):416-32. doi: 10.1086/511992. Epub 2007 Jan 18. Am J Hum Genet. 2007. PMID: 17273963 Free PMC article.
225 results