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Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis

All newborn screening laboratories in the United States and many worldwide screen for cystic fibrosis. Most laboratories use a second-tier genotyping assay to identify a panel of mutations in the CF transmembrane regulator (CFTR) gene. Centers for Disease Control and Prevention’s Newborn Screening Q...

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Detalles Bibliográficos
Autores principales: Hendrix, Miyono M., Foster, Stephanie L., Cordovado, Suzanne K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5332130/
https://www.ncbi.nlm.nih.gov/pubmed/28261631
http://dx.doi.org/10.1177/2326409816661358