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

Small nuclear RNAs (snRNAs) are essential factors in mRNA splicing. By 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 with microcephalic osteodysplastic primordial dwarfism type I (MOP...

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Detalhes bibliográficos
Main Authors: He, Huiling, Liyanarachchi, Sandya, Akagi, Keiko, Nagy, Rebecca, Li, Jingfeng, Dietrich, Rosemary C, Li, Wei, Sebastian, Nikhil, Wen, Bernard, Xin, Baozhong, Singh, Jarnail, Yan, Pearlly, Alder, Hansjuerg, Haan, Eric, Wieczorek, Dagmar, Albrecht, Beate, Puffenberger, Erik, Wang, Heng, Westman, Judith A., Padgett, Richard A, Symer, David E, de la Chapelle, Albert
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3380448/
https://ncbi.nlm.nih.gov/pubmed/21474760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1200587
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