Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia.
Rodríguez-Jiménez C, Pernía O, Mostaza J, Rodríguez-Antolín C, de Dios García-Díaz J, Alonso-Cerezo C, García-Polo I, Blanco A, Lahoz C, Arrieta F, Beltrán L, Díaz de Bustamante A, Garzón-Lorenzo L, Álvarez-Sala LA, Asenjo Á, Ibáñez de Cáceres I, Rodríguez-Nóvoa S.
Rodríguez-Jiménez C, et al.
Hum Mutat. 2019 Aug;40(8):1181-1190. doi: 10.1002/humu.23801. Epub 2019 Jun 18.
Hum Mutat. 2019.
PMID: 31106925
The LDLR activity was measured by flow cytometry and LDLR expression was detected by immunofluorescence. Seven new variants at LDLR were tested: c.518 G>C;p.(Cys173Ser), c.[684 G>T;694 G>T];p.[Glu228Asp;Ala232Ser], c.926C>A;p.(Pro309His), c.1261A& …
The LDLR activity was measured by flow cytometry and LDLR expression was detected by immunofluorescence. Seven new variants at LDLR were tes …