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Journal Abstract Search

161 related items for PubMed ID: 9852258

  • 1. A mutation in the lipoprotein lipase gene associated with hyperlipoproteinemia type I in mink: studies on lipid and lipase levels in heterozygotes.
    Lindberg A, Nordstoga K, Christophersen B, Savonen R, van Tol A, Olivecrona G.
    Int J Mol Med; 1998 Mar; 1(3):529-38. PubMed ID: 9852258
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  • 2. Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His).
    Rouis M, Lohse P, Dugi KA, Lohse P, Beg OU, Ronan R, Talley GD, Brunzell JD, Santamarina-Fojo S.
    J Lipid Res; 1996 Mar; 37(3):651-61. PubMed ID: 8728326
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  • 3. Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.
    Dichek HL, Fojo SS, Beg OU, Skarlatos SI, Brunzell JD, Cutler GB, Brewer HB.
    J Biol Chem; 1991 Jan 05; 266(1):473-7. PubMed ID: 1702428
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  • 4. Adipose cell size and distribution in familial lipoprotein lipase deficiency.
    Peeva E, Brun LD, Ven Murthy MR, Després JP, Normand T, Gagné C, Lupien PJ, Julien P.
    Int J Obes Relat Metab Disord; 1992 Oct 05; 16(10):737-44. PubMed ID: 1330953
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  • 7. A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
    Haubenwallner S, Hörl G, Shachter NS, Presta E, Fried SK, Höfler G, Kostner GM, Breslow JL, Zechner R.
    Genomics; 1993 Nov 05; 18(2):392-6. PubMed ID: 8288243
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  • 8. Chylomicron metabolism in an animal model for hyperlipoproteinemia type I.
    Savonen R, Nordstoga K, Christophersen B, Lindberg A, Shen Y, Hultin M, Olivecrona T, Olivecrona G.
    J Lipid Res; 1999 Jul 05; 40(7):1336-46. PubMed ID: 10393219
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  • 11. A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.
    Gotoda T, Yamada N, Murase T, Miyake S, Murakami R, Kawamura M, Kozaki K, Mori N, Shimano H, Shimada M.
    Biochim Biophys Acta; 1992 Apr 14; 1138(4):353-6. PubMed ID: 1562620
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  • 12. Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis.
    Hoffmann MM, Jacob S, Luft D, Schmülling RM, Rett K, März W, Häring HU, Matthaei S.
    J Clin Endocrinol Metab; 2000 Dec 14; 85(12):4795-8. PubMed ID: 11134145
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  • 13. A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.
    Ikeda Y, Goji K, Takagi A.
    Clin Sci (Lond); 2000 Dec 14; 99(6):569-78. PubMed ID: 11099402
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  • 14. A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia.
    Kobayashi J, Nishida T, Ameis D, Stahnke G, Schotz MC, Hashimoto H, Fukamachi I, Shirai K, Saito Y, Yoshida S.
    Biochem Biophys Res Commun; 1992 Jan 15; 182(1):70-7. PubMed ID: 1731801
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  • 15. Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.
    Emi M, Hata A, Robertson M, Iverius PH, Hegele R, Lalouel JM.
    Am J Hum Genet; 1990 Jul 15; 47(1):107-11. PubMed ID: 2349938
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  • 16. Insulin sensitivity is impaired in heterozygous carriers of lipoprotein lipase deficiency.
    Hölzl B, Iglseder B, Sandhofer A, Malaimare L, Lang J, Paulweber B, Sandhofer F.
    Diabetologia; 2002 Mar 15; 45(3):378-84. PubMed ID: 11914743
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  • 17. Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia.
    Pingitore P, Lepore SM, Pirazzi C, Mancina RM, Motta BM, Valenti L, Berge KE, Retterstøl K, Leren TP, Wiklund O, Romeo S.
    J Clin Lipidol; 2016 Mar 15; 10(4):816-823. PubMed ID: 27578112
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  • 18. Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia.
    Paulweber B, Wiebusch H, Miesenboeck G, Funke H, Assmann G, Hoelzl B, Sippl MJ, Friedl W, Patsch JR, Sandhofer F.
    Atherosclerosis; 1991 Feb 15; 86(2-3):239-50. PubMed ID: 1872917
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  • 19. Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.
    Hata A, Emi M, Luc G, Basdevant A, Gambert P, Iverius PH, Lalouel JM.
    Am J Hum Genet; 1990 Oct 15; 47(4):721-6. PubMed ID: 2121025
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  • 20. A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis.
    Yu XH, Zhao TQ, Wang L, Liu ZP, Zhang CM, Chen R, Li L, Liu G, Hu WC.
    Biochem Biophys Res Commun; 2006 Mar 03; 341(1):82-7. PubMed ID: 16431216
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