A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

Intellectual disability (ID) is a clinically complex and heterogeneous disorder, which has variable severity and may be associated with additional dysmorphic, metabolic, neuromuscular or psychiatric features. Although many coding variants have been implicated in ID, identification of pathogenic non-...

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發表在:Eur J Hum Genet
Main Authors: Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L, Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark, Gecz, Jozef
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2016
主題:
Short Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5110046/
https://ncbi.nlm.nih.gov/pubmed/27222290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.46
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