De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca(2+) regulation

Sudden unexplained death in childhood (SUDC) is an understudied problem. Whole-exome sequence data from 124 “trios” (decedent child, living parents) was used to test for excessive de novo mutations (DNMs) in genes involved in cardiac arrhythmias, epilepsy, and other disorders. Among decedents, nonsy...

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Detalles Bibliográficos
Autores principales: Halvorsen, Matthew, Gould, Laura, Wang, Xiaohan, Grant, Gariel, Moya, Raquel, Rabin, Rachel, Ackerman, Michael J., Tester, David J., Lin, Peter T., Pappas, John G., Maurano, Matthew T., Goldstein, David B., Tsien, Richard W., Devinsky, Orrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2021
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8719874/
https://www.ncbi.nlm.nih.gov/pubmed/34930847
http://dx.doi.org/10.1073/pnas.2115140118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8719874/
https://www.ncbi.nlm.nih.gov/pubmed/34930847
http://dx.doi.org/10.1073/pnas.2115140118

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