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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2012
Matèries:
Report
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars