共 50 条
- [41] Apolipoprotein B gene mutations and fatty liver disease in Japanese hypobetalipoproteinemiaARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2007, 27 (06) : E87 - E87Katsuda, ShojiKawashiri, Masa-akiInazu, AkihiroTada, HayatoTsuchida, MasayukiKaneko, YoshibumiNohara, AtsushiOkada, ToshihideKobayashi, JunjiMabuchi, HiroshiYamagishi, MasakazuNozue, TsuyoshiMichishita, Ichiro
- [42] Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosisJOURNAL OF LIPID RESEARCH, 2003, 44 (03) : 470 - 478Schonfeld, GPatterson, BWYablonskiy, DATanoli, TSKAverna, MElias, NYue, PAckerman, J
- [43] THE MOLECULAR-BASIS OF TRUNCATED FORMS OF APOLIPOPROTEIN-B IN A KINDRED WITH COMPOUND HETEROZYGOUS HYPOBETALIPOPROTEINEMIAJOURNAL OF LIPID RESEARCH, 1989, 30 (11) : 1773 - 1779TALMUD, PKINGUNDERWOOD, LKRUL, ESCHONFELD, GHUMPHRIES, S
- [44] Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein BBIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2004, 1688 (01): : 61 - 67Lancellotti, SDi Leo, EPenacchionia, JYBalli, FViola, LBertolini, SCalandra, STarugi, P
- [45] TRUNCATED APOLIPOPROTEIN-B IN A PATIENT WITH HYPOBETALIPOPROTEINEMIA HAS INCREASED LDL RECEPTOR-BINDING ACTIVITYCLINICAL RESEARCH, 1988, 36 (03): : A604 - A604KRUL, ESBROWN, SGOLDBERG, ACSCHONFELD, G
- [46] Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemiaATHEROSCLEROSIS, 2009, 206 (01) : 193 - 198Noto, DavideCefalu, Angelo B.Cannizzaro, AlessandraMina, MariangelaFayer, FrancescaValenti, VincenzaBarbagallo, Carlo M.Tuttolomondo, AntoninoPinto, AntonioSciume, CarmeloLicata, GiuseppeAverna, Maurizio
- [47] A MUTATION IN THE APOLIPOPROTEIN-B GENE RESULTS IN A TRUNCATED VARIANT, APO-B61, IN VLDL AND LDL IN A KINDRED WITH HYPOBETALIPOPROTEINEMIACIRCULATION, 1990, 82 (04) : 424 - 424PULLINGER, CRHILLAS, EHARDMAN, DACHEN, GCNAYAVIGNE, JMLALOUEL, JMWILLIAMS, RRKANE, JP
- [48] FAMILIAL HYPOBETALIPOPROTEINEMIA CAUSED BY A MUTATION IN THE APOLIPOPROTEIN-B GENE THAT RESULTS IN A TRUNCATED SPECIES OF APOLIPOPROTEIN-B (B-31) - A UNIQUE MUTATION THAT HELPS TO DEFINE THE PORTION OF THE APOLIPOPROTEIN-B MOLECULE REQUIRED FOR THE FORMATION OF BUOYANT, TRIGLYCERIDE-RICH LIPOPROTEINSJOURNAL OF CLINICAL INVESTIGATION, 1990, 85 (03): : 933 - 942YOUNG, SGHUBL, STSMITH, RSSNYDER, SMTERDIMAN, JF
- [49] A MUTATION IN THE APOLIPOPROTEIN-B GENE RESULTS IN A TRUNCATED VARIANT, APO-B-61, IN VLDL AND LDL IN A KINDRED WITH HYPOBETALIPOPROTEINEMIAARTERIOSCLEROSIS, 1990, 10 (05): : A771 - A771PULLINGER, CRHILLAS, EHARDMAN, DACHEN, GCNAYAVIGNE, JMLALOUEL, JMWILLIAMS, RRKANE, JP
- [50] Homozygous familial hypobetalipoproteinemia: Two novel mutations in the splicing sites of apolipoprotein B gene and review of the literatureATHEROSCLEROSIS, 2015, 239 (01) : 209 - 217Cefalu, Angelo B.Norata, Giuseppe D.Ghiglioni, Daniele G.Noto, DavideUboldi, PatriziaGarlaschelli, KatiaBaragetti, AndreaSpina, RossellaValenti, VincenzaPederiva, CristinaRiva, EnricaTerracciano, LuigiZoja, AlexaGrigore, LilianaAverna, Maurizio R.Catapano, Alberico L.