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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Библиографические подробности
Опубликовано в: :Biomed Rep
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: D.A. Spandidos 2021
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7694592/
https://ncbi.nlm.nih.gov/pubmed/33269076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/br.2020.1391
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