Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts

The American Journal of Human Genetics - Tập 106 - Trang 694-706 - 2020
Andrew P. Badrock1, Carolina Uggenti1,2,3, Ludivine Wacheul4, Siobhan Crilly5, Emma M. Jenkinson6, Gillian I. Rice6, Paul R. Kasher5, Denis L.J. Lafontaine4, Yanick J. Crow1,2,3, Raymond T. O’Keefe6
1Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK
2Université de Paris, Paris, France
3Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France
4RNA Molecular Biology, ULB Cancer Research Center (U-CRC), Center for Microscopy and Molecular Imaging (CMMI), Fonds de la Recherche Scientifique (F.R.S.-FNRS), Université Libre de Bruxelles (ULB), BioPark Campus, B-6041, Gosselies, Belgium
5Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, M13 9PT, UK
6Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PT, UK

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