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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Short Report
Acesso em linha: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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