Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia

Autor: Sjouke, Barbara, Defesche, Joep C., de Randamie, Janine S.E., Wiegman, Albert, Fouchier, Sigrid W., Hovingh, G. Kees

Publikováno v: In Atherosclerosis August 2016 251:263-265

Global Perspectives of Familial Hypercholesterolemia

Autor: Fouchier, Sigrid W., Defesche, Joep C., Kastelein, John J.P.

Publikováno v: Community Genetics, 2001 Jan 01. 4(2), 61-67.

Externí odkaz: https://www.jstor.org/stable/26664532

Biological, clinical and population relevance of 95 loci for blood lipids

Autor: Teslovich, Tanya M, Musunuru, Kiran, Smith, Albert V, Edmondson, Andrew C, Stylianou, Ioannis M, Koseki, Masahiro, Pirruccello, James P, Ripatti, Samuli, Chasman, Daniel I, Willer, Cristen J, Johansen, Christopher T, Fouchier, Sigrid W, Isaacs, Aaron, Peloso, Gina M, Barbalic, Maja, Ricketts, Sally L, Bis, Joshua C, Aulchenko, Yurii S, Thorleifsson, Gudmar, Feitosa, Mary F, Chambers, John, Orho-Melander, Marju, Melander, Olle, Johnson, Toby, Li, Xiaohui, Guo, Xiuqing, Li, Mingyao, Shin Cho, Yoon, Jin Go, Min, Jin Kim, Young, Lee, Jong-Young, Park, Taesung, Kim, Kyunga, Sim, Xueling, Twee-Hee Ong, Rick, Croteau-Chonka, Damien C, Lange, Leslie A, Smith, Joshua D, Song, Kijoung, Hua Zhao, Jing, Yuan, Xin, Luan, Jian'an, Lamina, Claudia, Ziegler, Andreas, Zhang, Weihua, Zee, Robert YL, Wright, Alan F, Witteman, Jacqueline CM, Wilson, James F, Willemsen, Gonneke, Wichmann, H-Erich, Whitfield, John B, Waterworth, Dawn M, Wareham, Nicholas J, Waeber, Gérard, Vollenweider, Peter, Voight, Benjamin F, Vitart, Veronique, Uitterlinden, Andre G, Uda, Manuela, Tuomilehto, Jaakko, Thompson, John R, Tanaka, Toshiko, Surakka, Ida, Stringham, Heather M, Spector, Tim D, Soranzo, Nicole, Smit, Johannes H, Sinisalo, Juha, Silander, Kaisa, Sijbrands, Eric JG, Scuteri, Angelo, Scott, James, Schlessinger, David, Sanna, Serena, Salomaa, Veikko, Saharinen, Juha, Sabatti, Chiara, Ruokonen, Aimo, Rudan, Igor, Rose, Lynda M, Roberts, Robert, Rieder, Mark, Psaty, Bruce M, Pramstaller, Peter P, Pichler, Irene, Perola, Markus, Penninx, Brenda WJH, Pedersen, Nancy L, Pattaro, Cristian, Parker, Alex N, Pare, Guillaume, Oostra, Ben A, O'Donnell, Christopher J, Nieminen, Markku S, Nickerson, Deborah A, Montgomery, Grant W, Meitinger, Thomas, McPherson, Ruth, McCarthy, Mark I

Publikováno v: Nature, vol 466, iss 7307

Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are targets for therapeutic interv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3483cdda0a8154cf3f4f34c028b6f3e0
https://escholarship.org/uc/item/61w7w636

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