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Article

LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene.

European journal of human genetics : EJHG - 1 Nov 2001

Holst H U, Dagnaes-Hansen F, Corydon T J, Andreasen P H, Jørgensen M M, Kølvraa S, Bolund L, Jensen T G

Abstract excerpt

The function of a series of LDL receptor GFP fusion proteins with different, flexible, unstructured spacer regions was analysed. An optimised version of the fusion protein was used to analyse the effect of an LDL receptor mutation (W556S) found in FH patients and characterised as transport defective. In cultured liver cells this mutation was found to inhibit the transport of LDL receptor GFP fusion protein to the...

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PMID: 11781697
DOI: 10.1038/sj.ejhg.5200718

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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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