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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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang: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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