Article
Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds.
Journal of lipid research - 1 Mar 2002
Neuman Rosalind J, Yuan Bo, Gerhard Daniela S, Liu Kuang-Yu, Yue Pin, Duan Shenghui, Averna Maurizio, Schonfeld Gustav
Abstract excerpt
Familial hypobetalipoproteinemia (FHBL) is a genetically heterogeneous condition characterized by very low apolipoprotein B (apoB) concentrations in plasma and/or low levels of LDL-cholesterol (LDL-C) with a propensity to developing fatty liver. In a minority of cases, truncation-specifying mutations of the apoB gene (APOB) are etiologic, but the genetic basis of most cases is unknown. We previously reported...
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