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Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling
In Michigan (MI), NBS for CF was started in October 2007 using the IRT/DNA protocol. In 2016, a component of the Hologic molecular test kit used by the MI NBS lab was recalled (40 CF mutation 2nd tier test). This recall had a major impact on states using the Hologic test kits in their NBS programs....
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8760430/ https://www.ncbi.nlm.nih.gov/pubmed/35059286 http://dx.doi.org/10.1016/j.rmcr.2021.101572 |