ABCC7 p.Gln207Trp
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PMID: 24412276
[PubMed]
Loo TW et al: "The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds."
No.
Sentence
Comment
122
Expression in the presence of VX-809 promoted maturation (30-60% as mature product) of all of the mutants except Q207F or Q207W (Fig. 2A and B).
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ABCC7 p.Gln207Trp 24412276:122:122
status: NEW185 Corrector VX-809 did not significantly increase the amount of mature CFTR in mutant V510D/Q207W (Fig. 6A and B).
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ABCC7 p.Gln207Trp 24412276:185:90
status: NEW