| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833634 | Molecular Genetics and Metabolism | 2014 | 6 Pages |
Abstract
Sequenom iPLEX assay is suitable for Fabry newborn screening when hotspot mutations and common variations are known in a well-studied population. In addition, this assay can also be applied for first-line determination of GLA variant sequences in suspected subjects of high-risk patients, or newborns.
Keywords
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Authors
Sheng-Hung Lee, Cheng-Fang Li, Hsiang-Yu Lin, Chien-Hsing Lin, Hao-Chuan Liu, Shih-Feng Tsai, Dau-Ming Niu,