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Journal Abstract Search

281 related items for PubMed ID: 10660334

  • 1. Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. Online.
    Evans D, Wendt D, Ahle S, Guerra A, Beisiegel U.
    Hum Mutat; 1998; 12(3):217. PubMed ID: 10660334
    [Abstract] [Full Text] [Related]

  • 2. 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; 99(6):569-78. PubMed ID: 11099402
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  • 3. Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations.
    Hooper AJ, Crawford GM, Brisbane JM, Robertson K, Watts GF, van Bockxmeer FM, Burnett JR.
    Ann Clin Biochem; 2008 Jan; 45(Pt 1):102-5. PubMed ID: 18275685
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  • 4. [Molecular genetics and lipoprotein lipase deficiency].
    Foubert L, Benlian P, de Gennes JL.
    Bull Acad Natl Med; 1994 Mar; 178(3):405-13. PubMed ID: 8076180
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  • 5. Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene.
    Overgaard M, Brasen CL, Svaneby D, Feddersen S, Nybo M.
    Ann Clin Biochem; 2013 Jul; 50(Pt 4):374-9. PubMed ID: 23761384
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  • 6. A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.
    Foubert L, Bruin T, De Gennes JL, Ehrenborg E, Furioli J, Kastelein J, Benlian P, Hayden M.
    Hum Mutat; 1997 Jul; 10(3):179-85. PubMed ID: 9298816
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  • 11. [Mutagenic aspects of the lipoprotein lipase gene].
    Petrescu-Dănilă E, Voicu PM, Ionescu CR.
    Rev Med Chir Soc Med Nat Iasi; 2006 Jul; 110(1):173-7. PubMed ID: 19292100
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  • 12. Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.
    Mailly F, Palmen J, Muller DP, Gibbs T, Lloyd J, Brunzell J, Durrington P, Mitropoulos K, Betteridge J, Watts G, Lithell H, Angelico F, Humphries SE, Talmud PJ.
    Hum Mutat; 1997 Jul; 10(6):465-73. PubMed ID: 9401010
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  • 14. [Method for the molecular diagnosis of lipoprotein lipase genetic deficiency].
    Ionescu CR, Petrescu-Dănilă E, Voicu PM, Durbală I, Botnariu G, Graur M, Petrovanu R, Dimofte I.
    Rev Med Chir Soc Med Nat Iasi; 2005 Jul; 109(4):848-53. PubMed ID: 16612849
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  • 15. Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome.
    Lam CW, Yuen YP, Cheng WF, Chan YW, Tong SF.
    Clin Chim Acta; 2006 Feb; 364(1-2):256-9. PubMed ID: 16153625
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  • 16. Lipoprotein lipase gene mutations in coronary artery disease.
    Minnich A, Baloukas J, Roederer G, Lussier-Cacan S, Davignon J, Genest J.
    Can J Cardiol; 1998 May; 14(5):711-6. PubMed ID: 9627528
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  • 17. Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase.
    Al-Shali K, Wang J, Fellows F, Huff MW, Wolfe BM, Hegele RA.
    Clin Biochem; 2002 Mar; 35(2):125-30. PubMed ID: 11983347
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