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Article

Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.

Atherosclerosis - 1 Jan 2020

Lamiquiz-Moneo Itziar, Restrepo-Córdoba María Alejandra, Mateo-Gallego Rocío, Bea Ana María, Del Pino Alberiche-Ruano María, García-Pavía Pablo, Cenarro Ana, Martín Cesar, Civeira Fernando, Sánchez-Hernández Rosa María

Abstract excerpt

BACKGROUND AND AIMS: Autosomal dominant familial hypercholesterolemia (FH) is caused by mutations in LDLR,APOB and PCSK9. Two new putative loci causing FH have been identified recently, the p.(Leu167del) mutation in APOE and new mutations in the signal transducing adaptor family member STAP1. We aimed at investigating the role of STAP1 mutations in the etiology of FH. METHODS: We sequenced LDLR, APOB, PCSK9,...

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Identifiers

PMID: 31809983
DOI: 10.1016/j.atherosclerosis.2019.11.025

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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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