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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Publicado no:Biomed Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2021
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Articles
Acesso em linha: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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