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G551D and G1349D, Two CF-associated Mutations in the Signature Sequences of CFTR, Exhibit Distinct Gating Defects
Mutations in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) result in cystic fibrosis (CF). CFTR is a chloride channel that is regulated by phosphorylation and gated by ATP binding and hydrolysis at its nucleotide binding domains (NBDs). G551D-CFTR, the third most commo...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Rockefeller University Press
2007
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2151620/ https://www.ncbi.nlm.nih.gov/pubmed/17353351 http://dx.doi.org/10.1085/jgp.200609667 |