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Article

Apolipoprotein E2 (Arg-136-->Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia.

European journal of clinical investigation - 1 Jan 1996

Feussner G, Albanese M, Mann W A, Valencia A, Schuster H

Abstract excerpt

Type III hyperlipoproteinaemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (arg-158-->Cys). We identified a 46-year-old white female with severe hyperlipidaemia and the heterozygous apo E3/2* phenotype. Typical clinical characteristics of type III HLP, i.e. palmar xanthomas (orange-yellowish discolorations of the palmar creases) and tuberoeruptive xanthomas, were present in the...

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Identifiers

PMID: 8682150
DOI: 10.1046/j.1365-2362.1996.83232.x

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Apolipoprotein E2 (Arg-136-->Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia.PMID 8682150Read ↗

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Identification of a new apolipoprotein E variant (E2 Arg142-->Leu) in type III hyperlipidemia.Semantic proximity Read ↗

Two Italian kindreds carrying the Arg136-->Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele.Semantic proximity Read ↗

Variable expression of hypercholesterolemia in Apolipoprotein E2* (Arg136 --> Cys) heterozygotes.Semantic proximity Read ↗

Rare apolipoprotein E variant identified in a patient with type III hyperlipidaemia.Semantic proximity Read ↗

Apolipoprotein E2 (Arg136 --> Cys) mutation in the receptor binding domain of apoE is not associated with dominant type III hyperlipoproteinemia.Semantic proximity Read ↗

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The Apolipoprotein E2(Arg145Cys) Mutation Causes Autosomal Dominant Type III Hyperlipoproteinemia With Incomplete PenetranceSemantic proximity Read ↗

Compound heterozygote for both rare apolipoprotein E1 (Gly127-->Asp, Arg158-->Cys) and E3(Cys112-->Arg, Arg251-->Gly) alleles in a multigeneration pedigree with hyperlipoproteinaemia.Semantic proximity Read ↗

Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia.Semantic proximity Read ↗

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