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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: hooper aj. 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.
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