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4. Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations. Tada H; Kawashiri MA; Yoshida T; Teramoto R; Nohara A; Konno T; Inazu A; Mabuchi H; Yamagishi M; Hayashi K Circ J; 2016; 80(2):512-8. PubMed ID: 26632531 [TBL] [Abstract][Full Text] [Related]
5. PCSK9 R46L, lower LDL, and cardiovascular disease risk in familial hypercholesterolemia: a cross-sectional cohort study. Saavedra YG; Dufour R; Davignon J; Baass A Arterioscler Thromb Vasc Biol; 2014 Dec; 34(12):2700-5. PubMed ID: 25278291 [TBL] [Abstract][Full Text] [Related]
6. Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia. Grenkowitz T; Kassner U; Wühle-Demuth M; Salewsky B; Rosada A; Zemojtel T; Hopfenmüller W; Isermann B; Borucki K; Heigl F; Laufs U; Wagner S; Kleber ME; Binner P; März W; Steinhagen-Thiessen E; Demuth I Atherosclerosis; 2016 Oct; 253():88-93. PubMed ID: 27596133 [TBL] [Abstract][Full Text] [Related]
7. Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways. Cameron J; Bogsrud MP; Tveten K; Strøm TB; Holven K; Berge KE; Leren TP Transl Res; 2012 Aug; 160(2):125-30. PubMed ID: 22683370 [TBL] [Abstract][Full Text] [Related]
8. Recent advances in the understanding and care of familial hypercholesterolaemia: significance of the biology and therapeutic regulation of proprotein convertase subtilisin/kexin type 9. Page MM; Stefanutti C; Sniderman A; Watts GF Clin Sci (Lond); 2015 Jul; 129(1):63-79. PubMed ID: 25881720 [TBL] [Abstract][Full Text] [Related]
9. Targeting the proprotein convertase subtilisin/kexin type 9 for the treatment of dyslipidemia and atherosclerosis. Urban D; Pöss J; Böhm M; Laufs U J Am Coll Cardiol; 2013 Oct; 62(16):1401-8. PubMed ID: 23973703 [TBL] [Abstract][Full Text] [Related]
10. A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene. Tada H; Kawashiri MA; Ohtani R; Noguchi T; Nakanishi C; Konno T; Hayashi K; Nohara A; Inazu A; Kobayashi J; Mabuchi H; Yamagishi M Atherosclerosis; 2011 Dec; 219(2):663-6. PubMed ID: 21872251 [TBL] [Abstract][Full Text] [Related]
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12. A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family. Lin J; Wang LY; Liu S; Wang XM; Yong Q; Yang Y; DU LP; Pan XD; Wang X; Jiang ZS Chin Med J (Engl); 2010 May; 123(9):1133-8. PubMed ID: 20529551 [TBL] [Abstract][Full Text] [Related]
13. Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes. Strøm TB; Holla ØL; Cameron J; Berge KE; Leren TP Clin Chim Acta; 2010 Feb; 411(3-4):229-33. PubMed ID: 19917273 [TBL] [Abstract][Full Text] [Related]
14. Elevated plasma PCSK9 level is equally detrimental for patients with nonfamilial hypercholesterolemia and heterozygous familial hypercholesterolemia, irrespective of low-density lipoprotein receptor defects. Lambert G; Petrides F; Chatelais M; Blom DJ; Choque B; Tabet F; Wong G; Rye KA; Hooper AJ; Burnett JR; Barter PJ; Marais AD J Am Coll Cardiol; 2014 Jun; 63(22):2365-73. PubMed ID: 24632287 [TBL] [Abstract][Full Text] [Related]
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