ABCC7 p.Arg516Ala
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PMID: 11597353
[PubMed]
Boucherot A et al: "Role of CFTR's PDZ1-binding domain, NBF1 and Cl(-) conductance in inhibition of epithelial Na(+) channels in Xenopus oocytes."
No.
Sentence
Comment
38
Using similar PCR techniques, the NBF1 mutants of human CFTR vF508, G551D, S466L, K464A, D572N, KH483/484AA, R487Q, R516A, KR598/600GA, KK611/612AA and K615A were in vitro synthesized (Quickchange, Stratagene).
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ABCC7 p.Arg516Ala 11597353:38:116
status: NEW118 The mutants S466L, KH483/484AA, R516A and KK611/612AA demonstrated a residual Cl3 channel function, which was paralleled by a limited ability to downregulate ENaC.
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ABCC7 p.Arg516Ala 11597353:118:32
status: NEW