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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...

Topics

Ammonium Chloride
Animals
Antibodies, Monoclonal
CHO Cells
Cell Line
Cricetinae
Fibroblasts
Gene Expression
Homozygote
Humans
Immunoblotting
Lipoproteins, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lipoproteins, VLDL

Mutation

Receptors, LDL

Transfection

Source

Identifiers

PMID: 1463746
DOI: 10.1021/bi00166a007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1463746-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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