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2. 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. PubMed ID: 2312735 [Abstract] [Full Text] [Related]
4. Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene. Young SG, Northey ST, McCarthy BJ. Science; 1988 Jul 29; 241(4865):591-3. PubMed ID: 3399894 [Abstract] [Full Text] [Related]
5. The molecular basis of truncated forms of apolipoprotein B in a kindred with compound heterozygous hypobetalipoproteinemia. Talmud P, King-Underwood L, Krul E, Schonfeld G, Humphries S. J Lipid Res; 1989 Nov 29; 30(11):1773-9. PubMed ID: 2614276 [Abstract] [Full Text] [Related]
6. A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene. Fazio S, Sidoli A, Vivenzio A, Maietta A, Giampaoli S, Menotti A, Antonini R, Urbinati G, Baralle FE, Ricci G. J Intern Med; 1991 Jan 29; 229(1):41-7. PubMed ID: 1995762 [Abstract] [Full Text] [Related]
9. Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2. Young SG, Bihain B, Flynn LM, Sanan DA, Ayrault-Jarrier M, Jacotot B. Hum Mol Genet; 1994 May 29; 3(5):741-4. PubMed ID: 8081360 [Abstract] [Full Text] [Related]
17. Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length. Young SG, Pullinger CR, Zysow BR, Hofmann-Radvani H, Linton MF, Farese RV, Terdiman JF, Snyder SM, Grundy SM, Vega GL. J Lipid Res; 1993 Mar 29; 34(3):501-7. PubMed ID: 8468533 [Abstract] [Full Text] [Related]
18. Homozygous hypobetalipoproteinemia with spared chylomicron formation. Harano Y, Kojima H, Nakano T, Harada M, Kashiwagi A, Nakajima Y, Hidaka TH, Ohtsuki T, Suzuki T, Tamura A. Metabolism; 1989 Jan 29; 38(1):1-7. PubMed ID: 2909827 [Abstract] [Full Text] [Related]
19. A targeted apolipoprotein B-38.9-producing mutation causes fatty livers in mice due to the reduced ability of apolipoprotein B-38.9 to transport triglycerides. Chen Z, Fitzgerald RL, Averna MR, Schonfeld G. J Biol Chem; 2000 Oct 20; 275(42):32807-15. PubMed ID: 10893242 [Abstract] [Full Text] [Related]
20. A new apolipoprotein B truncation (apo B-43.7) in familial hypobetalipoproteinemia: genetic and metabolic studies. Srivastava N, Noto D, Averna M, Pulai J, Srivastava RA, Cole TG, Latour MA, Patterson BW, Schonfeld G. Metabolism; 1996 Oct 20; 45(10):1296-304. PubMed ID: 8843188 [Abstract] [Full Text] [Related] Page: [Next] [New Search]