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Article

Identification of a heterozygous compound individual with familial hypercholesterolemia and familial defective apolipoprotein B-100.

Klinische Wochenschrift - 3 May 1991

Rauh G, Schuster H, Fischer J, Keller C, Wolfram G, Zöllner N

Abstract excerpt

Familial defective apolipoprotein B-100 (FDB) is a recently identified dominantly inherited genetic disorder, which leads to increased serum levels of low density lipoprotein (LDL) cholesterol with reduced affinity for the LDL receptor. This genetic disorder is characterized by defective binding of the apolipoprotein B-100 (apo B-100), which is virtually the sole protein constituent of LDL, to the LDL receptor....

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PMID: 2067318
DOI: 10.1007/BF01644767

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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