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Article

Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.

Clinical chemistry - 1 Apr 2012

Hollants Silke, Redeker Egbert J W, Matthijs Gert

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disorder that affects cholesterol metabolism and is an important risk factor for heart disease. Three different genes were causally linked to this disorder: LDLR (low density lipoprotein receptor), APOB [apolipoprotein B (including Ag(x) antigen)], and PCSK9 (proprotein convertase subtilisin/kexin type 9). We evaluated a new amplicon...

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Share to Apolipoproteins B
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Oligonucleotide Array Sequence Analysis

Share to Proprotein Convertase 9

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Share to Receptors, LDL

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Source

Identifiers

PMID: 22294733
DOI: 10.1373/clinchem.2011.173963

Genes

APOB
LDLR
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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