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Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing

Russian patients with familial hypercholesterolemia (FH) were screened for pathogenic mutations using targeted next generation sequencing. Genetic testing was performed in 52 probands with definite or probable FH based on the Dutch lipid clinic network criteria (DLCN score ≥ 6). Blood samples were s...

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Detalles Bibliográficos
Autores principales:	Semenova, Anna E., Sergienko, Igor V., García-Giustiniani, Diego, Monserrat, Lorenzo, Popova, Anna B., Nozadze, Diana N., Ezhov, Marat V.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7345545/ https://www.ncbi.nlm.nih.gov/pubmed/32423031 http://dx.doi.org/10.3390/jcdd7020016

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