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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Vydáno v:Eur J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
Témata:
Short Report
On-line přístup: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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