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
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
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
Pek SLT et al.
Atherosclerosis, 2018
Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.
Tichý L et al.
Physiological Research, 2017
The island of Gran Canaria: A genetic isolate for familial hypercholesterolemia.
Sánchez-Hernández RM et al.
Journal of Clinical Lipidology, 0
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