ABCC7 p.Leu571Asp
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53
After the insertion of the 2D (I601D/L602D) mutations, the L570D/L571D mutations were introduced into the 2D CFTR-3HA by PCR mutagenesis.
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ABCC7 p.Leu571Asp 19176754:53:65
status: NEW152 Abbreviations: N1⌬F, NBD1⌬F508; N14D, NBD1(L570D/L571D/ I601D/L602D); N2K, NBD2(N1303K); N1R, NBD1-R; N1⌬R, ⌬F508-NBD1-R (also see Supplemental Table S1).
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ABCC7 p.Leu571Asp 19176754:152:63
status: NEW170 Similar results were obtained upon replacing four hydrophobic core residues with aspartic acids (4D: L570D/L571D/I601D/ L602D) to disrupt the NBD1 folding (Figure 3, a and b, and Supplemental Figure S2b).
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ABCC7 p.Leu571Asp 19176754:170:107
status: NEW