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De novo mutations in regulatory elements in neurodevelopmental disorders

We previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory elements affecting genes associated with developmental disorders, or other genes, has been essentially unexplored. We i...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Nature
Prif Awduron: Short, Patrick J., McRae, Jeremy F., Gallone, Giuseppe, Sifrim, Alejandro, Won, Hyejung, Geschwind, Daniel H., Wright, Caroline F., Firth, Helen V, FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2018
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5912909/
https://ncbi.nlm.nih.gov/pubmed/29562236
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature25983
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