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Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

作者	He, HL; Liyanarachchi, S; Akagi, K; Nagy, R; Li, JF; Dietrich, RC; Li, W; Sebastian, N; Wen, B; Xin, BZ; 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

选自	期刊 Science; 卷期 2011年332-6026; 页码 238-240

关联知识点

[摘要]：Small nuclear RNAs (snRNAs) are essential factors in messenger RNA splicing. By means of homozygosity mapping and deep sequencing, we show that a gene encoding U4atac snRNA, a component of the minor U12-dependent spliceosome, is mutated in individuals wit
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