New mutations in APOB100 involved in familial hypobetalipoproteinemia

被引：5

作者：

Brusgaard, Klaus ^{[1
]}

Kjaersgaard, Lars

Hansen, Anne-Birthe Bo ^{[1
]}

Husby, Steffen

机构：

[1] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense C, Denmark

来源：

JOURNAL OF CLINICAL LIPIDOLOGY | 2010年 / 4卷 / 03期

关键词：

APOB100; LDL; Hypolipoproteinemia; Mutation; Malabsorption; Vitamin deficiency; APOLIPOPROTEIN-B; APO-B; ABSORPTION;

D O I：

10.1016/j.jacl.2010.02.009

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

Familial hypolipoproteinemia (FHBL) is characterized by an inherited low plasma level of apolipoprotein B containing lipoproteins FHBL may be caused by mutations of APOB Individuals with FHBL typically have intestinal malabsorption and frequently suffer from a deficiency of fat-soluble vitamins Most mutations that cause FHBL, are APOB truncating mutations Here we describe a patient with FHBL caused by a novel truncating in together with a novel missense mutation (C) 2010 National Lipid Association All rights reserved

引用

页码：181 / 184

页数：4

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