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Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma
Here we developed a haplotype-based noninvasive prenatal diagnosis method for hyperphenylalaninemia (HPA) and demonstrated its accuracy and feasibility during early pregnancy. Capture sequencing was performed on genomic DNA from parents and probands using customized hybridization probes targeting hi...
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| I publikationen: | Sci Rep |
|---|---|
| Huvudupphovsmän: | , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Nature Publishing Group UK
2018
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5760544/ https://ncbi.nlm.nih.gov/pubmed/29317692 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-18358-y |
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