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Journal Abstract Search

209 related items for PubMed ID: 12124991

  • 1. Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.
    Yue P, Yuan B, Gerhard DS, Neuman RJ, Isley WL, Harris WS, Schonfeld G.
    Hum Mutat; 2002 Aug; 20(2):110-6. PubMed ID: 12124991
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  • 2. Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation.
    Pulai JI, Zakeri H, Kwok PY, Kim JH, Wu J, Schonfeld G.
    Am J Med Genet; 1998 Nov 16; 80(3):218-20. PubMed ID: 9843041
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  • 3. Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia.
    Whitfield AJ, Marais AD, Robertson K, Barrett PH, van Bockxmeer FM, Burnett JR.
    Hum Mutat; 2003 Aug 16; 22(2):178. PubMed ID: 12872264
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  • 4. Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL.
    Yue P, Isley WL, Harris WS, Rosipal S, Akin CD, Schonfeld G.
    Atherosclerosis; 2005 Jan 16; 178(1):107-13. PubMed ID: 15585207
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  • 5. Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.
    Martín-Campos JM, Roig R, Mayoral C, Martinez S, Martí G, Arroyo JA, Julve J, Blanco-Vaca F.
    Clin Chim Acta; 2012 Mar 22; 413(5-6):552-5. PubMed ID: 22155345
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  • 7. Genetic variation of apolipoprotein B can produce both low and high levels of apoB-containing lipoproteins in plasma.
    Schonfeld G.
    Can J Cardiol; 1995 Oct 22; 11 Suppl G():86G-92G. PubMed ID: 7585299
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  • 11. Familial hypobetalipoproteinemia: genetics and metabolism.
    Schonfeld G, Lin X, Yue P.
    Cell Mol Life Sci; 2005 Jun 22; 62(12):1372-8. PubMed ID: 15818469
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  • 12. Lengths of truncated forms of apolipoprotein B (apoB) determine their intestinal production.
    Krul ES, Tang J, Kettler TS, Clouse RE, Schonfeld G.
    Biochem Biophys Res Commun; 1992 Dec 15; 189(2):1069-76. PubMed ID: 1472017
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  • 13. Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.
    Pulai JI, Neuman RJ, Groenewegen AW, Wu J, Schonfeld G.
    Am J Med Genet; 1998 Feb 26; 76(1):79-86. PubMed ID: 9508071
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  • 14. ApoB-54.8, a truncated apolipoprotein found primarily in VLDL, is associated with a nonsense mutation in the apoB gene and hypobetalipoproteinemia.
    Wagner RD, Krul ES, Tang J, Parhofer KG, Garlock K, Talmud P, Schonfeld G.
    J Lipid Res; 1991 Jun 26; 32(6):1001-11. PubMed ID: 1940616
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  • 15. Identification and molecular analysis of two apoB gene mutations causing low plasma cholesterol levels.
    Welty FK, Ordovas J, Schaefer EJ, Wilson PW, Young SG.
    Circulation; 1995 Oct 15; 92(8):2036-40. PubMed ID: 7554178
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  • 16. ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: genetic and kinetic studies.
    Krul ES, Parhofer KG, Barrett PH, Wagner RD, Schonfeld G.
    J Lipid Res; 1992 Jul 15; 33(7):1037-50. PubMed ID: 1431583
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  • 17. Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.
    Noto D, Cefalù AB, Valenti V, Fayer F, Pinotti E, Ditta M, Spina R, Vigna G, Yue P, Kathiresan S, Tarugi P, Averna MR.
    Arterioscler Thromb Vasc Biol; 2012 Mar 15; 32(3):805-9. PubMed ID: 22247256
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  • 18. Cryptogenic cirrhosis in a patient with familial hypocholesterolemia due to a new truncated form of apolipoprotein B.
    Bonnefont-Rousselot D, Condat B, Sassolas A, Chebel S, Bittar R, Federspiel MC, Cazals-Hatem D, Bruckert E.
    Eur J Gastroenterol Hepatol; 2009 Jan 15; 21(1):104-8. PubMed ID: 19060634
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  • 19. Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia.
    Elias N, Patterson BW, Schonfeld G.
    Arterioscler Thromb Vasc Biol; 1999 Nov 15; 19(11):2714-21. PubMed ID: 10559016
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