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Molecular mechanisms of cystic fibrosis – how mutations lead to misfunction and guide therapy

Cystic fibrosis, the most common autosomal recessive disorder in Caucasians, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a cAMP-activated chloride and bicarbonate channel that regulates ion and water transport in secretory epithelia. A...

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Detalles Bibliográficos
Autores principales: Farinha, Carlos M., Callebaut, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251585/
https://www.ncbi.nlm.nih.gov/pubmed/35707985
http://dx.doi.org/10.1042/BSR20212006