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Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.
Durst R, Colombo R, Shpitzen S, Avi LB, Friedlander Y, Wexler R, Raal FJ, Marais DA, Defesche JC, Mandelshtam MY, Kotze MJ, Leitersdorf E, Meiner V. Durst R, et al. Among authors: avi lb. Am J Hum Genet. 2001 May;68(5):1172-88. doi: 10.1086/320123. Epub 2001 Apr 17. Am J Hum Genet. 2001. PMID: 11309683 Free PMC article.
Human sterol 27-hydroxylase (CYP27) overexpressor transgenic mouse model. Evidence against 27-hydroxycholesterol as a critical regulator of cholesterol homeostasis.
Meir K, Kitsberg D, Alkalay I, Szafer F, Rosen H, Shpitzen S, Avi LB, Staels B, Fievet C, Meiner V, Björkhem I, Leitersdorf E. Meir K, et al. Among authors: avi lb. J Biol Chem. 2002 Sep 13;277(37):34036-41. doi: 10.1074/jbc.M201122200. Epub 2002 Jul 15. J Biol Chem. 2002. PMID: 12119285 Free article.