Fig 1: LDLR c.2160delC variant affected the expression of LDLR. (A) The mRNA expression level of LDLR c.2160delC in HEK293T cells. (B) The protein expression of LDLR c.2160delC in HEK293T cells. (C) LDLR expression on the HEK293T cell surface. **** represents P < 0.01
Fig 2: Representative confocal microscopy images of the localization of LDLR in the endoplasmic reticulum. Blue fluorescence represents the endoplasmic reticulum, while red fluorescence represents LDLR
Fig 3: Pathogenic variants and in silico analysis. (A) The results of whole-exome sequencing. (B) Sanger sequencing confirmed the existence of LDLR c.2160delC. The reverse primer was used for Sanger sequencing. The shaded area represents the actual base. The contents of the box are the stop codon induced by the deletion mutation of the 2160 locus
Supplier Page from Abcam for Anti-LDL Receptor antibody [301] (APC)