Mol Med Rep 2018 Apr 20. Epub 2018 Apr 20.
Department of Cardiology, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, P.R. China.
Homozygous familial hypercholesterolemia (FH) is rare, with an incidence of ~one in a million and commonly presents with a genetic mutation. The genetic variations of families with FH were clinically analyzed to investigate the association between the phenotype and genotype of patients. Direct sequencing was conducted for the proband and her parents to detect mutations in the fragment of 18 exons of the low‑density lipoprotein receptor (LDLR) and apolipoprotein B100 Q3500R in the peripheral blood genomic DNA. Read More