Article
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
Circulation. Cardiovascular genetics - 1 Dec 2015
Hopkins Paul N, Defesche Joep, Fouchier Sigrid W, Bruckert Eric, Luc Gérald, Cariou Bertrand, Sjouke Barbara, Leren Trond P, Harada-Shiba Mariko, Mabuchi Hiroshi, Rabès Jean-Pierre, Carrié Alain, van Heyningen Charles, Carreau Valérie, Farnier Michel, Teoh Yee P, Bourbon Mafalda, Kawashiri Masa-Aki, Nohara Atsushi, Soran Handrean, Marais A David, Tada Hayato, Abifadel Marianne, Boileau Catherine, Chanu Bernard, Katsuda Shoji, Kishimoto Ichiro, Lambert Gilles, Makino Hisashi, Miyamoto Yoshihiro, Pichelin Matthieu, Yagi Kunimasa, Yamagishi Masakazu, Zair Yassine, Mellis Scott, Yancopoulos George D, Stahl Neil, Mendoza Johanna, Du Yunling, Hamon Sara, Krempf Michel, Swergold Gary D
Abstract excerpt
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 in a multinational...
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