Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis

This is a descriptive cross-sectional study that aims to determine the distribution of the CFTR causing variant in a group of patients at a cystic fibrosis (CF) center in southern Brazil, as well as to describe causing variants that are treatable with mutation-specific drugs. Ninety-two patients fro...

Descripción completa

Detalles Bibliográficos
Autores principales: Lima, Eliandra da Silveira, Pezzin, Luíse Sgarabotto, Fensterseifer, Ana Carolina, Pinto, Leonardo Araújo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2021
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8650020/
https://www.ncbi.nlm.nih.gov/pubmed/34874053
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0275

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8650020/
https://www.ncbi.nlm.nih.gov/pubmed/34874053
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0275

Ejemplares similares