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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Vydáno v:Hum Genomics
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Primary Research
On-line přístup: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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