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Article

Phenotypic characterization of a patient homozygous for the D558N LDL receptor gene mutation.

Clinical genetics - 1 Nov 1996

Jensen H K, Jensen L G, Heath F, Melsen F, Hansen P S, Meinertz H, Bolund L, Gregersen N, Faergeman O

Abstract excerpt

We describe the clinical, biochemical, and genetic features of a patient with true homozygous familial hypercholesterolemia due to the D558N low-density lipoprotein receptor gene mutation, previously designated FH Cincinnati-4. Functional flow-cytometric analysis of the LDL receptorR protein on upregulated EBV-transformed lymphocytes indicated reduction of the number of receptors on the cell surface by 87% and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 9007329
DOI: 10.1111/j.1399-0004.1996.tb02393.x

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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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