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251 related items for PubMed ID: 3473077

  • 1. Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100.
    Young SG, Bertics SJ, Curtiss LK, Dubois BW, Witztum JL.
    J Clin Invest; 1987 Jun; 79(6):1842-51. PubMed ID: 3473077
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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
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  • 3. Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia.
    Young SG, Bertics SJ, Curtiss LK, Witztum JL.
    J Clin Invest; 1987 Jun; 79(6):1831-41. PubMed ID: 3584472
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  • 5. Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred.
    Leppert M, Breslow JL, Wu L, Hasstedt S, O'Connell P, Lathrop M, Williams RR, White R, Lalouel JM.
    J Clin Invest; 1988 Sep; 82(3):847-51. PubMed ID: 2901434
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  • 6. 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
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  • 11. 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
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  • 12. A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5).
    Tarugi P, Lonardo A, Ballarini G, Erspamer L, Tondelli E, Bertolini S, Calandra S.
    J Hepatol; 2000 Sep 29; 33(3):361-70. PubMed ID: 11019990
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  • 13. Two apolipoprotein B gene defects in a kindred with hypobetalipoproteinemia, one of which results in a truncated variant, apoB-61, in VLDL and LDL.
    Pullinger CR, Hillas E, Hardman DA, Chen GC, Naya-Vigne JM, Iwasa JA, Hamilton RL, Lalouel JM, Williams RR, Kane JP.
    J Lipid Res; 1992 May 29; 33(5):699-710. PubMed ID: 1619363
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  • 14. Dual mechanisms for the low plasma levels of truncated apolipoprotein B proteins in familial hypobetalipoproteinemia. Analysis of a new mouse model with a nonsense mutation in the Apob gene.
    Kim E, Cham CM, Véniant MM, Ambroziak P, Young SG.
    J Clin Invest; 1998 Mar 15; 101(6):1468-77. PubMed ID: 9502790
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  • 15. Hypobetalipoproteinemia associated with apo B-48.4, a truncated protein only 14 amino acids longer than apo B-48.
    Ruotolo G, Zanelli T, Tettamanti C, Ragogna F, Parlavecchia M, Viganò F, Catapano AL.
    Atherosclerosis; 1998 Mar 15; 137(1):125-31. PubMed ID: 9568744
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  • 16. Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia.
    Conca P, Pileggi S, Simonelli S, Boer E, Boscutti G, Magnolo L, Tarugi P, Penco S, Franceschini G, Calabresi L, Gomaraschi M.
    J Clin Lipidol; 2012 Mar 15; 6(3):244-50. PubMed ID: 22658148
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  • 17. ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: genetic and kinetic studies.
    Krul ES, Parhofer KG, Barrett PH, Wagner RD, Schonfeld G.
    J Lipid Res; 1992 Jul 15; 33(7):1037-50. PubMed ID: 1431583
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  • 18. Lipoproteins containing the truncated apolipoprotein, Apo B-89, are cleared from human plasma more rapidly than Apo B-100-containing lipoproteins in vivo.
    Parhofer KG, Barrett PH, Bier DM, Schonfeld G.
    J Clin Invest; 1992 Jun 15; 89(6):1931-7. PubMed ID: 1602000
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  • 19. 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 15; 45(10):1296-304. PubMed ID: 8843188
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  • 20. 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 15; 3(5):741-4. PubMed ID: 8081360
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