Llwytho...

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their underlying genetic heterogeneity. Our previous wh...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Hum Genet
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2016
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4974067/
https://ncbi.nlm.nih.gov/pubmed/27476654
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.06.003
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