Screening by high‐throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies

This short report documented cystic fibrosis transmembrane conductance regulator (CFTR) variants in 37 patients with cystic fibrosis (CF) in the Rio Grande do Norte region of Northeast Brazil. The high‐throughput sequencing technology (HTS) genetic testing provided a definitive molecular diagnosis i...

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Detalles Bibliográficos
Autores principales: de Melo, Ana Cristina Vieira, de Souza, Karla Simone Costa, da Silva, Heglayne Pereira Vital, Maia, Jussara Melo de Cerqueira, Dantas, Vera Maria, Bezerra, João Felipe, de Rezende, Adriana Augusto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716207/
https://www.ncbi.nlm.nih.gov/pubmed/36369753
http://dx.doi.org/10.1111/jcmm.17605

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