Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
نویسندگان
چکیده
منابع مشابه
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
BACKGROUND Patients with PCSK9 gene gain of function (GOF) mutations have a rare form of autosomal dominant hypercholesterolemia. However, data examining their clinical characteristics and geographic distribution are lacking. Furthermore, no randomized treatment study in this population has been reported. METHODS AND RESULTS We compiled clinical characteristics of PCSK9 GOF mutation carriers ...
متن کاملApolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.
OBJECTIVE We have reported further heterogeneity in familial autosomal-dominant hypercholesterolemia (FH) related to mutation in proprotein convertase subtilisin/kexin type 9 (PCSK9) gene previously named neural apoptosis regulated convertase 1 (Narc-1). Our aim was to define the metabolic bases of this new form of hypercholesterolemia. METHODS AND RESULTS In vivo kinetics of apolipoprotein B...
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ژورنال
عنوان ژورنال: Circulation: Cardiovascular Genetics
سال: 2015
ISSN: 1942-325X,1942-3268
DOI: 10.1161/circgenetics.115.001129