Associated Papers
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
41542120 (PubMed )
Supplement: mmc1.pdf
A Japanese Case of Familial Hypercholesterolemia with a Protein-truncating Variant in LDLR and a PCSK9 Variant without Significant Atherosclerosis but Showing Remarkable Achilles Tendon Thickening.
Minamizuka T et al.
Internal Medicine (tokyo, Japan), 2024
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
Pek SLT et al.
Atherosclerosis, 2018
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L et al.
Scientific Reports, 2015
26608663 (PubMed )
Supplement: srep17272-s1.doc
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2015
Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.
Mak YT et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 1998
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