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A single amino acid substitution in CFTR converts ATP to an inhibitory ligand
Cystic fibrosis (CF), one of the most common lethal genetic diseases, is caused by loss-of-function mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a chloride channel that, when phosphorylated, is gated by ATP. The third most common pathogenic mutation...
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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
The Rockefeller University Press
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4178940/ https://ncbi.nlm.nih.gov/pubmed/25225552 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1085/jgp.201411247 |
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