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....

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Detalles Bibliográficos
Autores principales: Qussous, Khaleel, Abdulhamid, Ibrahim, Kleyn, Mary, Schuen, John, Nasr, Samya Z.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
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

Internet

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

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