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Article

An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).

Clinical genetics - 1 May 1999

Ekström U, Abrahamson M, Florén C H, Tollig H, Wettrell G, Nilsson G, Sun X M, Soutar A K, Nilsson-Ehle P

Abstract excerpt

Familial hypercholesterolemia (FH) is caused by a defect in the function of the low density lipoprotein (LDL) receptor and inherited in an autosomal, codominant way. In this study we present a 13-year-old girl, compound heterozygote for the LDL receptor mutations C240F and Y167X. Fibroblasts from the patient showed very low cholesterol esterification rate, LDL uptake, and degradation compared to normal...

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Identifiers

PMID: 10422803
DOI: 10.1034/j.1399-0004.1999.550506.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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