Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor)

Aurélie Thedrez,Dirk J. Blom,Stéphane Ramin-Mangata,Valentin Blanchard,Mikaël Croyal,Kévin Chemello,Brice Nativel,Matthieu Pichelin,Bertrand Cariou,Steeve Bourane,Lihua Tang,Michel Farnier,Frederick J. Raal,Gilles Lambert

Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor)

2018

Aurélie Thedrez
Dirk J. Blom
Stéphane Ramin-Mangata
Valentin Blanchard
Mikaël Croyal
Kévin Chemello
Brice Nativel
Matthieu Pichelin
Bertrand Cariou
Steeve Bourane
Lihua Tang
Michel Farnier
Frederick J. Raal
Gilles Lambert

Objective—Evolocumab, a PCSK9 (proprotein convertase subtilisin kexin type 9)–neutralizing antibody, lowers low-density lipoprotein cholesterol (LDL-C) in homozygous familial hypercholesterolemic (...

Keywords:

LDL receptor
Biology
Cholesterol
Lipoprotein
Biochemistry
Familial hypercholesterolemia
Heterozygote advantage
PCSK9
Endocrinology
Proprotein convertase
Kexin
Internal medicine
Mutation
Subtilisin

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