Development of an Optimized Tetra-Amplification Refractory Mutation System PCR for Detection of 12 Pathogenic Familial Hypercholesterolemia Variants in the Asian Population. The Journal of Molecular Diagnostics, 24 (2). pp. 120-130. ISSN 1943-7811 (2022)
Abstract
Early detection of genetic diseases such as familial hypercholesterolemia (FH), and the confirmation of related pathogenic variants, are crucial in reducing the risk for premature coronary artery disease currently, next-generation sequencing is used for detecting FH-related candidate genes but is expensive and time-consuming. There is a lack of kits suitable for the detection of the common FH-related variants in the Asia-Pacific region. Thus, this study addressed that need with the development of an optimized tetra-amplification mutation system (T-ARMS) PCRebased assay for the detection of 12 pathogenic variants of FH in the Asian population.
| Item Type: | Article |
|---|---|
| Keywords: | Genetic diseases, Familial Hypercholesterolemia (FH), Pathogenic variants, Tetra-amplification mutation system (T-ARMS) |
| Taxonomy: | By Niche > Genome > Genomes By Niche > Genome > Genomes Data Processing By Niche > Genome > Human Genome Research |
| Local Content Hub: | Niche > Genome |
| Depositing User: | Hazrul Amir Tomyang (Puncak Alam) |
| Date Deposited: | 05 Sep 2023 09:00 |
| Last Modified: | 05 Sep 2023 09:00 |
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