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

Author:

Miroshnikova Valentina1,Romanova Olga2,Ivanova Olga3ORCID,Fedyakov Mikhail2,Panteleeva Alexandra1,Barbitoff Yury4ORCID,Muzalevskaya Maria5,Urazgildeeva Sorejya5,Gurevich Victor5,Urazov Stanislav2ORCID,Scherbak Sergey2ORCID,Sarana Andrey6ORCID,Semenova Natalia3ORCID,Anisimova Inga3ORCID,Guseva Darya3ORCID,Pchelina Sofya1,Glotov Andrey2,Zakharova Ekaterina3,Glotov Oleg2ORCID

Affiliation:

1. Laboratory of Human Molecular Genetics, Molecular and Radiation Biophysics Department, Petersburg Nuclear Physics Institute, National Research Center ‘Kurchatov Institute’, Gatchina 188300, Russian Federation

2. Genetic Laboratory of City Hospital No. 40, Saint‑Petersburg, 197706, Russian Federation

3. Laboratory of Hereditary Metabolic Diseases and Counselling Unit of Federal State Budgetary Institution ‘Research Centre for Medical Genetics’, Moscow 115522, Russian Federation

4. Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproduction, Saint‑Petersburg 199034, Russian Federation

5. Department for Atherosclerosis and Lipid Disorders of North‑Western District Scientific and Clinical Center Named After L.G. Sokolov FMBA, Saint‑Petersburg 194291, Russian Federation

6. Medical Faculty of Saint‑Petersburg State University, Saint‑Petersburg 199034, Russian Federation

Publisher

Spandidos Publications

Subject

General Pharmacology, Toxicology and Pharmaceutics,General Biochemistry, Genetics and Molecular Biology,General Medicine,General Neuroscience

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