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Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.
Young SG, Hubl ST, Smith RS, Snyder SM, Terdiman JF. Young SG, et al. Among authors: smith rs. J Clin Invest. 1990 Mar;85(3):933-42. doi: 10.1172/JCI114522. J Clin Invest. 1990. PMID: 2312735 Free PMC article.
848 results