Publications:

ANGPTL3 Inhibition With Evinacumab Results in Faster Clearance of IDL and LDL apoB in Patients With Homozygous Familial Hypercholesterolemia-Brief Report.

Arteriosclerosis, Thrombosis, And Vascular Biology

Reeskamp, Laurens F LF; Millar, John S JS; Wu, Liya L; Jansen, Hans H; van Harskamp, Dewi D; Schierbeek, Henk H; Gipe, Daniel A DA; Rader, Daniel J DJ; Dallinga-Thie, Geesje M GM; Hovingh, G Kees GK; Cuchel, Marina M

Publication Date: 2021-05-05

Variant appearance in text: LDLR: Cys231del

PubMed Link: 33691480

Variant Present in the following documents:

• atv-41-1753.pdf

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Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.

Arteriosclerosis, Thrombosis, And Vascular Biology

Banerjee, Poulabi P; Chan, Kuo-Chen KC; Tarabocchia, Michel M; Benito-Vicente, Asier A; Alves, Ana C AC; Uribe, Kepa B KB; Bourbon, Mafalda M; Skiba, Paul J PJ; Pordy, Robert R; Gipe, Daniel A DA; Gaudet, Daniel D; Martin, Cesar C

Publication Date: 2019-11

Variant appearance in text: LDLR: Cys231del

PubMed Link: 31578082

Variant Present in the following documents:

• atv-39-2248.pdf

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Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Atherosclerosis

Futema, Marta M; Whittall, Ros A RA; Kiley, Amy A; Steel, Louisa K LK; Cooper, Jackie A JA; Badmus, Ebele E; Leigh, Sarah E SE; Karpe, Fredrik F; Neil, H Andrew W HA; , ; Humphries, Steve E SE

Publication Date: 2013-07

Variant appearance in text: LDLR: Cys231del

PubMed Link: 23669246

Variant Present in the following documents:

• Main text

View BVdb publication page