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-...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Eur J Hum Genet
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group 2016
विषय:
Short Report
ऑनलाइन पहुंच: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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