De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Individuals with severe, sporadic disorders of infantile onset represent an important class of disease for which discovery of the underlying genetic architecture is not amenable to traditional genetic analysis. Full-genome sequencing of affected individuals and their parents provides a powerful alte...

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Main Authors: Veeramah, Krishna R., O'Brien, Janelle E., Meisler, Miriam H., Cheng, Xiaoyang, Dib-Hajj, Sulayman D., Waxman, Stephen G., Talwar, Dinesh, Girirajan, Santhosh, Eichler, Evan E., Restifo, Linda L., Erickson, Robert P., Hammer, Michael F.
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2012
נושאים:
Report
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3309181/
https://ncbi.nlm.nih.gov/pubmed/22365152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.01.006
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