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The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

There has been considerable progress in the implementation of newborn screening (NBS) programs for cystic fibrosis (CF), with DNA analysis being part of an increasing number of strategies. Thanks to advances in genomic sequencing technologies, CFTR-extended genetic analysis (EGA) by sequencing its c...

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Detalles Bibliográficos
Autores principales: Bergougnoux, Anne, Lopez, Maureen, Girodon, Emmanuelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422980/
https://www.ncbi.nlm.nih.gov/pubmed/33073020
http://dx.doi.org/10.3390/ijns6010023