Litcius/Paper detail

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

Andrew P. Badrock, Carolina Uggenti, Ludivine Wacheul, Siobhan Crilly, Emma M. Jenkinson, Gillian Rice, Paul R. Kasher, Denis L. J. Lafontaine, Yanick J. Crow, Raymond T. O’Keefe

2020The American Journal of Human Genetics32 citationsDOIOpen Access PDF

Topics & Concepts

BiologyZebrafishGeneticsBiogenesisRibosome biogenesisMutantSmall nucleolar RNAMutationRibosomeRNAGeneNon-coding RNARNA modifications and cancerRNA and protein synthesis mechanismsRNA Research and Splicing