Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing

Familial hypercholesterolemia (FH) is caused by mutations in various genes, including the LDLR, APOB and PSCK9 genes; however, the spectrum of these mutations in Russian individuals has not been fully investigated. In the present study, mutation screening was performed on the LDLR gene and other FH-...

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Autores principales: Miroshnikova, Valentina V., Romanova, Olga V., Ivanova, Olga N., Fedyakov, Mikhail A., Panteleeva, Alexandra A., Barbitoff, Yury A., Muzalevskaya, Maria V., Urazgildeeva, Sorejya A., Gurevich, Victor S., Urazov, Stanislav P., Scherbak, Sergey G., Sarana, Andrey M., Semenova, Natalia A., Anisimova, Inga V., Guseva, Darya M., Pchelina, Sofya N., Glotov, Andrey S., Zakharova, Ekaterina Y., Glotov, Oleg S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
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Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7694592/
https://www.ncbi.nlm.nih.gov/pubmed/33269076
http://dx.doi.org/10.3892/br.2020.1391

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