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Article

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific reports - 31 Jan 2018

Elbitar Sandy, Susan-Resiga Delia, Ghaleb Youmna, El Khoury Petra, Peloso Gina, Stitziel Nathan, Rabès Jean-Pierre, Carreau Valérie, Hamelin Josée, Ben-Djoudi-Ouadda Ali, Bruckert Eric, Boileau Catherine, Seidah Nabil G, Varret Mathilde, Abifadel Marianne

Abstract excerpt

Autosomal dominant hypercholesterolemia (ADH) is characterized by elevated LDL-C levels leading to coronary heart disease. Four genes are implicated in ADH: LDLR, APOB, PCSK9 and APOE. Our aim was to identify new mutations in known genes, or in new genes implicated in ADH. Thirteen French families with ADH were recruited and studied by exome sequencing after exclusion, in their probands, of mutations in the LDLR,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29386597
DOI: 10.1038/s41598-018-20281-9
PMCID: PMC5792649

Genes

APOB
PCSK9
APOE
LDLR

Variants

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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