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Article

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific reports - 3 Feb 2020

Galicia-Garcia Unai, Benito-Vicente Asier, Uribe Kepa B, Jebari Shifa, Larrea-Sebal Asier, Alonso-Estrada Rocio, Aguilo-Arce Joseba, Ostolaza Helena, Palacios Lourdes, Martin Cesar

Abstract excerpt

The primary genetic cause of familial hypercholesterolemia (FH) is related to mutations in the LDLR gene encoding the Low-density Lipoprotein Receptor. LDLR structure is organized in 5 different domains, including an EGF-precursor homology domain that plays a pivotal role in lipoprotein release and receptor recycling. Mutations in this domain constitute 51.7% of the total missense variants described in LDLR. The...

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Identifiers

PMID: 32015373
DOI: 10.1038/s41598-020-58734-9
PMCID: PMC6997160

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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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