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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...
Autores principales: | Semenova, Anna E., Sergienko, Igor V., García-Giustiniani, Diego, Monserrat, Lorenzo, Popova, Anna B., Nozadze, Diana N., Ezhov, Marat V. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
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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