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New connections between splicing and human disease.
Padgett RA. Padgett RA. Trends Genet. 2012 Apr;28(4):147-54. doi: 10.1016/j.tig.2012.01.001. Epub 2012 Mar 5. Trends Genet. 2012. PMID: 22397991 Free PMC article. Review.
Where in the cell is the minor spliceosome?
Steitz JA, Dreyfuss G, Krainer AR, Lamond AI, Matera AG, Padgett RA. Steitz JA, et al. Proc Natl Acad Sci U S A. 2008 Jun 24;105(25):8485-6. doi: 10.1073/pnas.0804024105. Epub 2008 Jun 17. Proc Natl Acad Sci U S A. 2008. PMID: 18562285 Free PMC article. No abstract available.
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.
He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A. He H, et al. Science. 2011 Apr 8;332(6026):238-40. doi: 10.1126/science.1200587. Science. 2011. PMID: 21474760 Free PMC article.