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2. Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia. Burnett JR; Zhong S; Jiang ZG; Hooper AJ; Fisher EA; McLeod RS; Zhao Y; Barrett PH; Hegele RA; van Bockxmeer FM; Zhang H; Vance DE; McKnight CJ; Yao Z J Biol Chem; 2007 Aug; 282(33):24270-83. PubMed ID: 17588943 [TBL] [Abstract][Full Text] [Related]
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4. 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; 19(11):2714-21. PubMed ID: 10559016 [TBL] [Abstract][Full Text] [Related]
5. Molecular diagnosis of hypobetalipoproteinemia: an ENID review. Tarugi P; Averna M; Di Leo E; Cefalù AB; Noto D; Magnolo L; Cattin L; Bertolini S; Calandra S Atherosclerosis; 2007 Dec; 195(2):e19-27. PubMed ID: 17570373 [TBL] [Abstract][Full Text] [Related]
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8. 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; 22(2):178. PubMed ID: 12872264 [TBL] [Abstract][Full Text] [Related]
9. A targeted apolipoprotein B-38.9-producing mutation causes fatty livers in mice due to the reduced ability of apolipoprotein B-38.9 to transport triglycerides. Chen Z; Fitzgerald RL; Averna MR; Schonfeld G J Biol Chem; 2000 Oct; 275(42):32807-15. PubMed ID: 10893242 [TBL] [Abstract][Full Text] [Related]
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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; 76(1):79-86. PubMed ID: 9508071 [TBL] [Abstract][Full Text] [Related]
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