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Article

Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.

Journal of clinical lipidology - 1 Jan 2000

Chiou Kuan-Rau, Charng Min-Ji

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is a heterogeneous autosomal dominant disease. The genetic heterogeneity of FH requires low-cost, high-throughput, and rapid mutation detection technology to efficiently integrate genetic screening into clinical practice. OBJECTIVES: The aims of the study were to customize the MassARRAY assay to (1) establish an FH mutation assay panel, comprising known point...

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Identifiers

PMID: 28502495
DOI: 10.1016/j.jacl.2016.12.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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