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Journal Abstract Search

149 related items for PubMed ID: 2121025

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  • 3. Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene.
    Hölzl B, Huber R, Paulweber B, Patsch JR, Sandhofer F.
    J Lipid Res; 1994 Dec; 35(12):2161-9. PubMed ID: 7897314
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  • 4. 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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  • 5. Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia.
    Foubert L, De Gennes JL, Benlian P, Truffert J, Miao L, Hayden MR.
    Hum Mutat; 1998 Jan 05; Suppl 1():S141-4. PubMed ID: 9452069
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  • 6. Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8.
    Ikeda Y, Takagi A, Nakata Y, Sera Y, Hyoudou S, Hamamoto K, Nishi Y, Yamamoto A.
    J Lipid Res; 2001 Jul 05; 42(7):1072-81. PubMed ID: 11441134
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  • 7. 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 05; 47(1):107-11. PubMed ID: 2349938
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  • 8. A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries.
    Ma Y, Wilson BI, Bijvoet S, Henderson HE, Cramb E, Roederer G, Ven Murthy MR, Julien P, Bakker HD, Kastelein JJ.
    Genomics; 1992 Jul 05; 13(3):649-53. PubMed ID: 1639392
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  • 9. A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family.
    Chimienti G, Capurso A, Resta F, Pepe G.
    Biochem Biophys Res Commun; 1992 Sep 16; 187(2):620-7. PubMed ID: 1530621
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  • 10. Deciphering the role of V200A and N291S mutations leading to LPL deficiency.
    Botta M, Maurer E, Ruscica M, Romeo S, Stulnig TM, Pingitore P.
    Atherosclerosis; 2019 Mar 16; 282():45-51. PubMed ID: 30685441
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  • 12. A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.
    Ishimura-Oka K, Semenkovich CF, Faustinella F, Goldberg IJ, Shachter N, Smith LC, Coleman T, Hide WA, Brown WV, Oka K.
    J Lipid Res; 1992 May 16; 33(5):745-54. PubMed ID: 1619366
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  • 13. Molecular genetics of apoC-II and lipoprotein lipase deficiency.
    Fojo SS, de Gennes JL, Beisiegel U, Baggio G, Stalenhoef AF, Brunzell JD, Brewer HB.
    Adv Exp Med Biol; 1991 May 16; 285():329-33. PubMed ID: 1858563
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  • 14. 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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  • 15. 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 14; 1(3):529-38. PubMed ID: 9852258
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  • 16. A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia.
    Ma Y, Liu MS, Zhang H, Forsythe IJ, Brunzell JD, Hayden MR.
    Hum Mol Genet; 1993 Jul 14; 2(7):1049-50. PubMed ID: 8364543
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  • 17. Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.
    Reina M, Brunzell JD, Deeb SS.
    J Lipid Res; 1992 Dec 14; 33(12):1823-32. PubMed ID: 1479292
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  • 18. Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
    Ameis D, Kobayashi J, Davis RC, Ben-Zeev O, Malloy MJ, Kane JP, Lee G, Wong H, Havel RJ, Schotz MC.
    J Clin Invest; 1991 Apr 14; 87(4):1165-70. PubMed ID: 2010533
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  • 19. 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 14; 86(2-3):239-50. PubMed ID: 1872917
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  • 20. Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.
    Henderson HE, Bijvoet SM, Mannens MA, Bruin T, Erkelens DW, Hayden MR, Kastelein JJ.
    Am J Med Genet; 1998 Jul 24; 78(4):313-6. PubMed ID: 9714430
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