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Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.
Zhong S, Magnolo AL, Sundaram M, Zhou H, Yao EF, Di Leo E, Loria P, Wang S, Bamji-Mirza M, Wang L, McKnight CJ, Figeys D, Wang Y, Tarugi P, Yao Z. Zhong S, et al. J Biol Chem. 2010 Feb 26;285(9):6453-64. doi: 10.1074/jbc.M109.060467. Epub 2009 Dec 23. J Biol Chem. 2010. PMID: 20032471 Free PMC article.
Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100.
Young SG, Bertics SJ, Curtiss LK, Dubois BW, Witztum JL. Young SG, et al. J Clin Invest. 1987 Jun;79(6):1842-51. doi: 10.1172/JCI113026. J Clin Invest. 1987. PMID: 3473077 Free PMC article.