Article
Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.
American journal of human genetics - 1 May 2000
Yuan B, Neuman R, Duan S H, Weber J L, Kwok P Y, Saccone N L, Wu J S, Liu K Y, Schonfeld G
Abstract excerpt
Familial hypobetalipoproteinemia (FHBL) is an apparently autosomal dominant disorder of lipid metabolism characterized by less than fifth percentile age- and sex-specific levels of apolipoprotein beta (apobeta) and low-density lipoprotein-cholesterol. In a minority of cases, FHBL is due to truncation-producing mutations in the apobeta gene on chromosome 2p23-24. Previously, we reported on a four-generation FHBL...
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