Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.

Melody Lok-Yi ChanChing-Lung CheungAlan Chun-Hong LeeChun-Yip YeungChung-Wah SiuJenny Yin-Yan LeungHo-Kwong PangKathryn Choon Beng Tan

Published in: Molecular genetics & genomic medicine (2018)

Approximately two-third of the subjects in this clinically ascertained sample of patients with FH had a discrete genetic basis. Genetic identification improves the response rate and efficiency of family screening.

Keyphrases

genome wide
copy number
dna methylation