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Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study
PURPOSE: Many regions have implemented newborn screening (NBS) for cystic fibrosis (CF) using a limited panel of cystic fibrosis transmembrane regulator (CFTR) mutations after immunoreactive trypsinogen (IRT) analysis. We sought to assess the feasibility of further improving the screening using next...
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| Publicado no: | Genet Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4802962/ https://ncbi.nlm.nih.gov/pubmed/25674778 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.209 |
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