Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

BACKGROUND: Conditions associated with sudden cardiac arrest/death (SCA/D) in youth often have a genetic etiology. While SCA/D is uncommon, a pro-active family screening approach may identify these inherited structural and electrical abnormalities prior to symptomatic events and allow appropriate su...

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Опубликовано в: :Hum Genomics
Главные авторы: Li, Mindy H., Abrudan, Jenica L., Dulik, Matthew C., Sasson, Ariella, Brunton, Joshua, Jayaraman, Vijayakumar, Dugan, Noreen, Haley, Danielle, Rajagopalan, Ramakrishnan, Biswas, Sawona, Sarmady, Mahdi, DeChene, Elizabeth T., Deardorff, Matthew A., Wilkens, Alisha, Noon, Sarah E., Scarano, Maria I., Santani, Avni B., White, Peter S., Pennington, Jeffrey, Conlin, Laura K., Spinner, Nancy B., Krantz, Ian D., Vetter, Victoria L.
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2015
Предметы:
Primary Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4506570/
https://ncbi.nlm.nih.gov/pubmed/26187847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-015-0038-y
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