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Article

Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.

Current opinion in lipidology - 1 Apr 2017

Bourbon Mafalda, Alves Ana C, Sijbrands Eric J

Abstract excerpt

PURPOSE OF REVIEW: To present up to date evidence on the pathogenicity of low-density lipoprotein receptor (LDLR) variants and to propose a strategy that is suitable for implementation in the clinical work-up of familial hypercholesterolaemia. RECENT FINDINGS: More than 1800 variants have been described in the LDLR gene of patients with a clinical diagnosis of familial hypercholesterolaemia; however, less than...

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Identifiers

PMID: 28169869
DOI: 10.1097/MOL.0000000000000404

Genes

LDLR

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