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Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46).
Gladstone Foundation Laboratories for Cardiovascular Disease, Cardiovascular Research Institute, Department of Medicine, University of California, San Francisco 94140-0608.
PMID: 2725600 [PubMed - indexed for MEDLINE]
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Cited by 4 PubMed Central articles
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Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice.
Homanics GE, Smith TJ, Zhang SH, Lee D, Young SG, Maeda N.
Proc Natl Acad Sci U S A. 1993 Mar 15; 90(6):2389-93.
[Proc Natl Acad Sci U S A. 1993]
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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.
J Clin Invest. 1990 Mar; 85(3):933-42.
[J Clin Invest. 1990]
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A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.
Welty FK, Hubl ST, Pierotti VR, Young SG.
J Clin Invest. 1991 May; 87(5):1748-54.
[J Clin Invest. 1991]
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