Associated Papers
Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.
Singh P et al.
Journal of Molecular Biology, 2018
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
27219052 (PubMed )
Supplement: pone.0155552.s003.pdf
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR et al.
Orphanet Journal of Rare Diseases, 2014
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
Wan J et al.
Nature Genetics, 2012
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