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Глава 17
1. Johnson JM, Castle J, Garrett-Engele P, Kan Z, Loerch PM, Armour CD, Santos R, Schadt EE, Stoughton R, Shoemaker DD. Genomewide survey of human alternative pre-mRNA splicing with exon junction microarrays. Science. 2003 Dec 19;302(5653):2141-4.
2. Цит. no: Keren H, Lev-Maor G, Ast G. Alternative splicing and evolution: diversification, exon definition and function. Nat Rev Genet. 2010 May; 11(5):345-55.
3. Эти стадии очень четко описаны в ряде обзоров. Напр.: WangGS, Cooper ТА. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet. 2007 Oct; 8(10):749-61.
4. Подробнее о сплайсосоме см., напр., в: Padgett RA. New connections between splicing and human disease. Trends Genet. 2012 Apr; 28(4):147-54.
5. http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa.
6. Vithana EN, Abu-Safeh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19ql3.4(RPll). Mol Cell. 2001 Aug; 8
