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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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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Medical Association 2021
Materias:	Original Investigation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8156154/ https://www.ncbi.nlm.nih.gov/pubmed/34037665 http://dx.doi.org/10.1001/jamacardio.2021.1301

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