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Article

Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.

Human mutation - 1 Jun 2010

Huijgen Roeland, Kindt Iris, Fouchier Sigrid W, Defesche Joep C, Hutten Barbara A, Kastelein John J P, Vissers Maud N

Abstract excerpt

Patients with familial hypercholesterolemia (FH) have elevated LDL-C levels, usually above the 90th percentile (P90) for age and gender. However, large-scale genetic cascade screening for FH showed that 15% of the LDL-receptor (LDLR) or Apolipoprotein B (APOB) mutation carriers have LDL-C levels below P75. Nonpathogenicity of sequence changes may explain this phenomenon. To assess pathogenicity of a mutation we...

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Source

Identifiers

PMID: 20506408
DOI: 10.1002/humu.21258

Genes

APOB
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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