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- [2] Mutations in PCSK9 cause autosomal dominant hypercholesterolemiaNATURE GENETICS, 2003, 34 (02) : 154 - 156Abifadel, MVarret, MRabès, JPAllard, DOuguerram, KDevillers, MCruaud, CBenjannet, SWickham, LErlich, DDerré, AVilléger, LFarnier, MBeucler, IBruckert, EChambaz, JChanu, BLecerf, JMLuc, GMoulin, PWeissenbach, JPrat, AKrempf, MJunien, CSeidah, NGBoileau, C
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- [5] Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal AntibodyCIRCULATION-CARDIOVASCULAR GENETICS, 2015, 8 (06) : 823 - 831Hopkins, Paul N.Defesche, JoepFouchier, Sigrid W.Bruckert, EricLuc, GeraldCariou, BertrandSjouke, BarbaraLeren, Trond P.Harada-Shiba, MarikoMabuchi, HiroshiRabes, Jean-PierreCarrie, Alainvan Heyningen, CharlesCarreau, ValerieFarnier, MichelTeoh, Yee P.Bourbon, MafaldaKawashiri, Masa-akiNohara, AtsushiSoran, HandreanMarais, A. DavidTada, HayatoAbifadel, MarianneBoileau, CatherineChanu, BernardKatsuda, ShojiKishimoto, IchiroLambert, GillesMakino, HisashiMiyamoto, YoshihiroPichelin, MatthieuYagi, KunimasaYamagishi, MasakazuZair, YassineMellis, ScottYancopoulos, George D.Stahl, NeilMendoza, JohannaDu, YunlingHamon, SaraKrempf, MichelSwergold, Gary D.
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- [7] A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigreeHuman Genetics, 2004, 114 : 349 - 353Kirsten M. TimmsSusanne WagnerMark E. SamuelsKristian ForbeyHoward GoldfineSrikanth JammulapatiMark H. SkolnickPaul N. HopkinsSteve C. HuntDonna M. Shattuck
- [8] A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigreeHUMAN GENETICS, 2004, 114 (04) : 349 - 353Timms, KMWagner, SSamuels, MEForbey, KGoldfine, HJammulapati, SSkolnick, MHHopkins, PNHunt, SCShattuck, DM
- [9] PCSK9 inhibition for autosomal recessive hypercholesterolemiaATHEROSCLEROSIS, 2019, 284 : 209 - 211Chemello, KevinMartin, CesarLambert, Gilles
- [10] Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemiaATHEROSCLEROSIS, 2012, 223 (02) : 394 - 400Abifadel, MarianneGuerin, MaryseBenjannet, SuzanneRabes, Jean-PierreLe Goff, WilfriedJulia, ZelieHamelin, JoseeCarreau, ValerieVarret, MathildeBruckert, EricTosolini, LaurentMeilhac, OlivierCouvert, PhilippeBonnefont-Rousselot, DominiqueChapman, JohnCarrie, AlainMichel, Jean-BaptistePrat, AnnikSeidah, Nabil G.Boileau, Catherine