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Article

Familial defective apolipoprotein B-100 in 12 subjects and their kindred.

European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies - 1 Nov 1992

Geisel J, Schleifenbaum T, Oette K, Weisshaar B

Abstract excerpt

Twelve unrelated subjects with heterozygous familial defective apolipoprotein B-100 were identified in a group of 252 patients with type IIa hypercholesterolaemia. Approximately 5% of hypercholesterolaemia can be explained by this mutation in the collective studied. Familial defective apolipoprotein B-100 is therefore the most common known mutation causing primary hypercholesterolaemia. Family studies revealed an...

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Identifiers

PMID: 1489844
DOI: 10.1515/cclm.1992.30.11.729

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