Open AccessIdentification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing
Author(s) -
В. В. Мирошникова,
О. В. Романова,
О.Н. Иванова,
Mikhail A. Fedyakov,
А. А. Пантелеева,
Yury A. Barbitoff,
M.V. Muzalevskaya,
S. А. Urazgildeeva,
V. S. Gurevich,
Stanislav P. Urazov,
Sergey G. Scherbak,
Andrey М. Sarana,
Н. А. Семенова,
И. В. Анисимова,
Д. М. Гусева,
Sofya Pchelina,
Andrey S. Glotov,
Ekaterina Zakharova,
Oleg S. Glotov
Publication year - 2020
Publication title -
biomedical reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.607
H-Index - 25
eISSN - 2049-9442
pISSN - 2049-9434
DOI - 10.3892/br.2020.1391
Subject(s) - familial hypercholesterolemia , missense mutation , apolipoprotein b , ldl receptor , genetics , mutation , gene , pcsk9 , biology , gene mutation , medicine , cholesterol , lipoprotein