Article
Known mutations of apoB account for only a small minority of hypobetalipoproteinemia.
Journal of lipid research - 1 May 1999
Wu J, Kim J, Li Q, Kwok P Y, Cole T G, Cefalu B, Averna M, Schonfeld G
Abstract excerpt
Low LDL cholesterol and apoB levels in plasma cosegregate with mutations of apoB in some kindreds with familial hypobetalipoproteinemia. Approximately 35 apoB mutations, many specifying apoB truncations, have been described. Based on the centile nomenclature where the full-length nature apoB consisting of 4536 amino acids is designated as apoB-100, only those truncations of apoB >25% of normal length are...
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