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pro vyhledávání: '"Lucie Nohelová"'
Autor:
Lucie Dušková, Lucie Nohelová, Tomáš Loja, Jana Fialová, Petra Zapletalová, Kamila Réblová, Lukáš Tichý, Tomáš Freiberger, Lenka Fajkusová
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Background: Pathogenic variants in the low density lipoprotein receptor gene are associated with familial hypercholesterolemia. Some of these variants can result in incorrect folding of the LDLR protein, which is then accumulated inside the cell and
Externí odkaz:
https://doaj.org/article/e0b1b4537abe45e4844fcda7349ffdb8