Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment

Bowen-Conradi syndrome (BCS) is a severe genetic disorder that is characterised by various developmental abnormalities, bone marrow failure and early infant death. This disease is caused by a single mutation leading to the aspartate 86 to glycine (D86G) exchange in the essential nucleolar RNA methyl...

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Bibliographic Details
Published in:Hum Mol Genet
Main Authors: Warda, Ahmed S., Freytag, Bernard, Haag, Sara, Sloan, Katherine E., Görlich, Dirk, Bohnsack, Markus T.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5418833/
https://ncbi.nlm.nih.gov/pubmed/27798105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw351
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