Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis

IMPORTANCE: Familial hypercholesterolemia (FH) is the most common inherited cardiovascular disease and carries significant morbidity and mortality risks. Genetic testing can identify affected individuals, but some array-based assays screen only a small subset of known pathogenic variants. OBJECTIVE:...

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發表在:JAMA Cardiol
Main Authors: Sturm, Amy C., Truty, Rebecca, Callis, Thomas E., Aguilar, Sienna, Esplin, Edward D., Garcia, Sarah, Haverfield, Eden V., Morales, Ana, Nussbaum, Robert L., Rojahn, Susan, Vatta, Matteo, Rader, Daniel J.
格式: Artigo
語言:Inglês
出版: American Medical Association 2021
主題:
Original Investigation
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8156154/
https://ncbi.nlm.nih.gov/pubmed/34037665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamacardio.2021.1301
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