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Article

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Journal of internal medicine - 1 Oct 2014

Maglio C, Mancina R M, Motta B M, Stef M, Pirazzi C, Palacios L, Askaryar N, Borén J, Wiklund O, Romeo S

Abstract excerpt

OBJECTIVES: The aim of this study was to combine clinical criteria and next-generation sequencing (pyrosequencing) to establish a diagnosis of familial hypercholesterolaemia (FH). DESIGN, SETTING AND SUBJECTS: A total of 77 subjects with a Dutch Lipid Clinic Network score of ≥ 3 (possible, probable or definite FH clinical diagnosis) were recruited from the Lipid Clinic at Sahlgrenska Hospital, Gothenburg, Sweden....

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Apolipoproteins B

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Proprotein Convertase 9

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Share to Receptors, LDL

Share to Sequence Analysis, DNA

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Source

Open in PubMed Open full text

Identifiers

PMID: 24785115
DOI: 10.1111/joim.12263
PMCID: PMC4369133

Genes

LDLR
APOB
PCSK9
LDLRAP1

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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