Open AccessIdentification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing
Author(s) -
В. В. Мирошникова,
Olga Romanova,
О Н Иванова,
Mikhail А. Fedyakov,
Alexandra Panteleeva,
Yury A. Barbitoff,
M.V. Muzalevskaya,
S. А. Urazgildeeva,
Gurevich Vs,
Stanislav P. Urazov,
Sergey G. Scherbak,
Аndrey М. Sarana,
Наталя Семенова,
И. В. Анисимова,
Daria Guseva,
Sofya Pchelina,
Аndrey 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
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom