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The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia.
Chase TH, Lyons BL, Bronson RT, Foreman O, Donahue LR, Burzenski LM, Gott B, Lane P, Harris B, Ceglarek U, Thiery J, Wittenburg H, Thon JN, Italiano JE Jr, Johnson KR, Shultz LD. Chase TH, et al. Among authors: wittenburg h. Blood. 2010 Feb 11;115(6):1267-76. doi: 10.1182/blood-2009-05-219808. Epub 2009 Oct 21. Blood. 2010. PMID: 19846887 Free PMC article.
Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus.
von Kampen O, Buch S, Nothnagel M, Azocar L, Molina H, Brosch M, Erhart W, von Schönfels W, Egberts J, Seeger M, Arlt A, Balschun T, Franke A, Lerch MM, Mayerle J, Kratzer W, Boehm BO, Huse K, Schniewind B, Tiemann K, Jiang ZY, Han TQ, Mittal B, Srivastava A, Fenger M, Jørgensen T, Schirin-Sokhan R, Tönjes A, Wittenburg H, Stumvoll M, Kalthoff H, Lammert F, Tepel J, Puschel K, Becker T, Schreiber S, Platzer M, Völzke H, Krawczak M, Miquel JF, Schafmayer C, Hampe J. von Kampen O, et al. Among authors: wittenburg h. Hepatology. 2013 Jun;57(6):2407-17. doi: 10.1002/hep.26009. Epub 2013 Jan 25. Hepatology. 2013. PMID: 22898925
73 results