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Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS
[Image: see text] Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) gene variants. Previous research has identified some PAH mutation hotspots in Chinese patients with PKU. In this study, we introduce a novel MassArray panel for screening the 29 common PAH gene mutations in Chinese...
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| Veröffentlicht in: | ACS Omega |
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| Hauptverfasser: | , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Chemical Society
2020
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| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7003239/ https://ncbi.nlm.nih.gov/pubmed/32039316 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/acsomega.9b02955 |
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