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Journal Abstract Search

167 related items for PubMed ID: 10679949

  • 1. Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
    Wang J, Hegele RA.
    Hum Mutat; 2000 Mar; 15(3):294-5. PubMed ID: 10679949
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  • 2. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.
    Sharp D, Blinderman L, Combs KA, Kienzle B, Ricci B, Wager-Smith K, Gil CM, Turck CW, Bouma ME, Rader DJ.
    Nature; 1993 Sep 02; 365(6441):65-9. PubMed ID: 8361539
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  • 3. Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.
    Hammer MB, El Euch-Fayache G, Nehdi H, Feki M, Maamouri-Hicheri W, Hentati F, Amouri R.
    J Clin Neurosci; 2014 Feb 02; 21(2):311-5. PubMed ID: 24139731
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  • 4. Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.
    Walsh MT, Di Leo E, Okur I, Tarugi P, Hussain MM.
    Biochim Biophys Acta; 2016 Nov 02; 1861(11):1623-1633. PubMed ID: 27487388
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  • 5. Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.
    Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T.
    Mol Genet Metab; 2007 Apr 02; 90(4):453-7. PubMed ID: 17275380
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  • 6. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.
    Ohashi K, Ishibashi S, Osuga J, Tozawa R, Harada K, Yahagi N, Shionoiri F, Iizuka Y, Tamura Y, Nagai R, Illingworth DR, Gotoda T, Yamada N.
    J Lipid Res; 2000 Aug 02; 41(8):1199-204. PubMed ID: 10946006
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  • 7. Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.
    Di Leo E, Lancellotti S, Penacchioni JY, Cefalù AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, Tarugi P.
    Atherosclerosis; 2005 Jun 02; 180(2):311-8. PubMed ID: 15910857
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  • 9. Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
    Al-Shali K, Wang J, Rosen F, Hegele RA.
    Clin Genet; 2003 Feb 02; 63(2):135-8. PubMed ID: 12630961
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  • 13. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.
    Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB, Grantham TT, Fox MF, Povey S, de Bruin TW.
    Am J Hum Genet; 1995 Dec 02; 57(6):1298-310. PubMed ID: 8533758
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  • 14. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov 02; 49(4):318-45. PubMed ID: 12553167
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  • 15. The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians.
    Berthier MT, Couture P, Houde A, Paradis AM, Sammak A, Verner A, Deprés JP, Gagné C, Gaudet D, Vohl MC.
    Mol Genet Metab; 2004 Feb 02; 81(2):140-3. PubMed ID: 14741197
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  • 16. Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia.
    Aminoff A, Gunnar E, Barbaro M, Mannila MN, Duponchel C, Tosi M, Robinson KL, Hernell O, Ehrenborg E.
    Clin Genet; 2012 Aug 02; 82(2):197-200. PubMed ID: 22150066
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  • 17. [Microsomal triglyceride transfer protein and abetalipoproteinemia].
    Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M.
    Ann Endocrinol (Paris); 2000 May 02; 61(2):125-9. PubMed ID: 10891663
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  • 18. Abetalipoproteinemia: two case reports and literature review.
    Zamel R, Khan R, Pollex RL, Hegele RA.
    Orphanet J Rare Dis; 2008 Jul 08; 3():19. PubMed ID: 18611256
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