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Article

Low-density lipoprotein receptor point mutation results in expression of both active and inactive surface forms of the same mutant receptor.

Biochemistry - 29 Dec 1992

Fourie A M, Coetzee G A, Gevers W, van der Westhuyzen D R

Abstract excerpt

LDL receptors, expressed in cultured fibroblasts from patients homozygous for the FH Afrikaner-1 (FH1) mutation (Asp206 to Glu), are transported from the endoplasmic reticulum (ER) to the Golgi apparatus more slowly than in normal cells. In the present study, binding characteristics of FH1 cells for lipoprotein ligands (LDL and beta VLDL) and for receptor-specific monoclonal antibodies pointed to the existence of...

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Identifiers

PMID: 1463746
DOI: 10.1021/bi00166a007

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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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