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Article

Familial defective apo B-100, characterization of an Italian family.

European journal of clinical investigation - 1 Aug 1991

Corsini A, McCarthy B J, Granata A, Soria L F, Fantappiè S, Bernini, Romano C, Romano L, Fumagalli R, Catapano A L

Abstract excerpt

Familial defective apolipoprotein (apo) B-100 is a genetic disorder presenting with hypercholesterolaemia and abnormal low-density lipoprotein (LDL) that binds poorly to LDL receptors. This disease appears to be caused by a mutation in the apo B-100 gene. In the present study thirteen members of a family with moderate hypercholesterolaemia (250-350 mg dl-1) were investigated. Biochemical studies on cultured skin...

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Identifiers

PMID: 1936106
DOI: 10.1111/j.1365-2362.1991.tb01386.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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