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Novel missense MTTP gene mutations causing abetalipoproteinemia.
Miller SA, Burnett JR, Leonis MA, McKnight CJ, van Bockxmeer FM, Hooper AJ. Miller SA, et al. Among authors: mcknight cj. Biochim Biophys Acta. 2014 Oct;1842(10):1548-54. doi: 10.1016/j.bbalip.2014.08.001. Epub 2014 Aug 6. Biochim Biophys Acta. 2014. PMID: 25108285 Free article.
Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia.
Burnett JR, Zhong S, Jiang ZG, Hooper AJ, Fisher EA, McLeod RS, Zhao Y, Barrett PH, Hegele RA, van Bockxmeer FM, Zhang H, Vance DE, McKnight CJ, Yao Z. Burnett JR, et al. Among authors: mcknight cj. J Biol Chem. 2007 Aug 17;282(33):24270-83. doi: 10.1074/jbc.M702442200. Epub 2007 Jun 22. J Biol Chem. 2007. PMID: 17588943 Free article.
78 results