A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.

Yongjun SongReham Abdel Haleem Abo ElwafaOmneya Magdy OmarGo Hun SeoHane Lee

Published in: Molecular genetics & genomic medicine (2024)

This insertion may contribute to the high prevalence of hypercholesterolemia in Egypt and the finding underscores the importance of implementing mobile element insertion caller in routine bioinformatics pipeline.

Keyphrases

clinical practice
cardiovascular events
type diabetes
coronary artery disease
low density lipoprotein