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Molecular pathology of the R117H cystic fibrosis mutation is explained by loss of a hydrogen bond

The phosphorylation-activated anion channel cystic fibrosis transmembrane conductance regulator (CFTR) is gated by an ATP hydrolysis cycle at its two cytosolic nucleotide-binding domains, and is essential for epithelial salt-water transport. A large number of CFTR mutations cause cystic fibrosis. Si...

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Detalles Bibliográficos
Autores principales: Simon, Márton A, Csanády, László
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8673840/
https://www.ncbi.nlm.nih.gov/pubmed/34870594
http://dx.doi.org/10.7554/eLife.74693