Publications:

Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab.

Arteriosclerosis, Thrombosis, And Vascular Biology

Thedrez, Aurélie A; Blom, Dirk J DJ; Ramin-Mangata, Stéphane S; Blanchard, Valentin V; Croyal, Mikaël M; Chemello, Kévin K; Nativel, Brice B; Pichelin, Matthieu M; Cariou, Bertrand B; Bourane, Steeve S; Tang, Lihua L; Farnier, Michel M; Raal, Frederick J FJ; Lambert, Gilles G

Publication Date: 2018-03

Variant appearance in text: APOB: R3527E

PubMed Link: 29284604

Variant Present in the following documents:

• Main text

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Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene.

Molecular Genetics And Metabolism Reports

Leren, Trond P TP; Strøm, Thea Bismo TB; Berge, Knut Erik KE

Publication Date: 2016-12

Variant appearance in text: APOB: Arg3527Glu

PubMed Link: 27830118

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page