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Article

Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.

American journal of medical genetics - 26 Feb 1998

Pulai J I, Neuman R J, Groenewegen A W, Wu J, Schonfeld G

Abstract excerpt

Familial hypobetalipoproteinemia (FHBL) is an autosomal dominant disorder of lipid metabolism characterized by extremely low plasma levels of apolipoprotein B (apoB), and total-, and low-density lipoprotein (LDL) cholesterol. Various truncated forms of apoB have been found to cosegregate with the FHBL phenotype in more than 30 kindreds. By contrast, no truncated forms of apoB protein were detected with sensitive...

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PMID: 9508071

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Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.PMID 9508071Read ↗

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