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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...

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Autori principali: Bompadre, Silvia G., Sohma, Yoshiro, Li, Min, Hwang, Tzyh-Chang
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Rockefeller University Press 2007
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2151620/
https://ncbi.nlm.nih.gov/pubmed/17353351
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1085/jgp.200609667
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