A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
about
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease riskFamilial hypobetalipoproteinemia: a reviewNonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein BEndoplasmic Reticulum Stress Caused by Lipoprotein Accumulation Suppresses Immunity against Bacterial Pathogens and Contributes to ImmunosenescenceRecent progress in understanding protein and lipid factors affecting hepatic VLDL assembly and secretion.Genetic determinants of hepatic steatosis in man.Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitisMonogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism.Lipoprotein metabolism in nonalcoholic fatty liver diseaseCommon and rare gene variants affecting plasma LDL cholesterolFatty liver and insulin resistance: not always linked.Reconstituting initial events during the assembly of apolipoprotein B-containing lipoproteins in a cell-free system.A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia.Low LDL-C and high HDL-C levels are associated with elevated serum transaminases amongst adults in the United States: a cross-sectional study.Update on primary hypobetalipoproteinemia.Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia.Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia.Intestinal fatty acid binding protein and microsomal triglyceride transfer protein polymorphisms in French-Canadian youth.
P2860
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P2860
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
description
2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年學術文章
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name
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
@en
type
label
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
@en
prefLabel
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
@en
P2093
P2860
P356
P1476
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
@en
P2093
Amanda J Whitfield
Brooke A Miskie
C James McKnight
John R Burnett
P2860
P304
13442-13452
P356
10.1074/JBC.M300235200
P407
P577
2003-01-27T00:00:00Z