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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-...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Eur J Hum Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2016
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| Θέματα: | |
| Διαθέσιμο Online: | 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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