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Article

Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.

Current opinion in lipidology - 1 Jun 2017

Calandra Sebastiano, Tarugi Patrizia, Bertolini Stefano

Abstract excerpt

PURPOSE OF REVIEW: The systematic analysis of the major candidate genes in autosomal dominant hypercholesterolemia (ADH) and the use of next-generation sequencing (NGS) technology have made possible the discovery of several rare gene variants whose pathogenic effect in most cases remains poorly defined. RECENT FINDINGS: One major advance in the field has been the adoption of a set of international guidelines for...

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Apolipoproteins B
Apolipoproteins E
APOB gene
PCSK9 gene
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hyperlipoproteinemia Type II

Proprotein Convertase 9

Source

Identifiers

PMID: 28323660
DOI: 10.1097/MOL.0000000000000414

Genes

LDLR
APOB
APOE
PCSK9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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