Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators

Most of the 2,100 CFTR gene variants reported to date are still unknown in terms of their disease liability in Cystic Fibrosis (CF) and their molecular and cellular mechanism that leads to CFTR dysfunction. Since some rare variants may respond to currently approved modulators, characterizing their d...

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Detalles Bibliográficos
Autores principales: Railean, Violeta, Rodrigues, Cláudia S., Ramalho, Sofia S., Silva, Iris A. L., Bartosch, Jan, Farinha, Carlos M., Pankonien, Ines, Amaral, Margarida D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10063961/
https://www.ncbi.nlm.nih.gov/pubmed/37006619
http://dx.doi.org/10.3389/fmolb.2023.1155705

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10063961/
https://www.ncbi.nlm.nih.gov/pubmed/37006619
http://dx.doi.org/10.3389/fmolb.2023.1155705

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