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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Report
Acesso em linha: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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