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Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Journal of atherosclerosis and thrombosis - 1 May 2022

Huang Chin-Chou, Niu Dau-Ming, Charng Min-Ji

Abstract excerpt

AIM: Familial hypercholesterolemia (FH) is underdiagnosed in most countries. The genetic heterogeneity of FH requires an algorithm to efficiently integrate genetic testing into clinical practice. We aimed to report the spectrum of genetic mutations from patients with clinically diagnosed FH in Taiwan. METHODS: Patients with LDL-C＞190 mg/dL or those with probable or definite FH according to the Taiwan Lipid...

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Aged
Apolipoproteins B
DNA Mutational Analysis
Genetic Testing
Hyperlipoproteinemia Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Proprotein Convertase 9

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PMID: 33994402
DOI: 10.5551/jat.62773
PMCID: PMC9135666

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

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