BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 2121025)

  • 1. 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; 47(4):721-6. PubMed ID: 2121025
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.
    Ishimura-Oka K; Faustinella F; Kihara S; Smith LC; Oka K; Chan L
    Am J Hum Genet; 1992 Jun; 50(6):1275-80. PubMed ID: 1598907
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 266(1):473-7. PubMed ID: 1702428
    [TBL] [Abstract][Full Text] [Related]  

  • 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; Suppl 1():S141-4. PubMed ID: 9452069
    [No Abstract]   [Full Text] [Related]  

  • 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; 42(7):1072-81. PubMed ID: 11441134
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 47(1):107-11. PubMed ID: 2349938
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 13(3):649-53. PubMed ID: 1639392
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 187(2):620-7. PubMed ID: 1530621
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 282():45-51. PubMed ID: 30685441
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency.
    Bijvoet SM; Wiebusch H; Ma Y; Reymer PW; Bruin T; Bakker HD; Funke H; Assmann G; Hayden MR; Kastelein JJ
    Neth J Med; 1996 Nov; 49(5):189-95. PubMed ID: 8973094
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 33(5):745-54. PubMed ID: 1619366
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 285():329-33. PubMed ID: 1858563
    [No Abstract]   [Full Text] [Related]  

  • 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; 1138(4):353-6. PubMed ID: 1562620
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 1(3):529-38. PubMed ID: 9852258
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 2(7):1049-50. PubMed ID: 8364543
    [No Abstract]   [Full Text] [Related]  

  • 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; 33(12):1823-32. PubMed ID: 1479292
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 87(4):1165-70. PubMed ID: 2010533
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 86(2-3):239-50. PubMed ID: 1872917
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 78(4):313-6. PubMed ID: 9714430
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.