Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

Nonsense-mediated decay (NMD) is an important process that is best known for degrading transcripts that contain premature stop codons (PTCs) to mitigate their potentially harmful consequences, although its regulatory role encompasses other classes of transcripts as well. Despite the critical role of...

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Publicado no:Am J Hum Genet
Main Authors: Shaheen, Ranad, Anazi, Shams, Ben-Omran, Tawfeg, Seidahmed, Mohammed Zain, Caddle, L. Brianna, Palmer, Kristina, Ali, Rehab, Alshidi, Tarfa, Hagos, Samya, Goodwin, Leslie, Hashem, Mais, Wakil, Salma M., Abouelhoda, Mohamed, Colak, Dilek, Murray, Stephen A., Alkuraya, Fowzan S.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4833216/
https://ncbi.nlm.nih.gov/pubmed/27018474
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.02.010
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