ABCC7 p.Arg352Gly
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PMID: 18421494
[PubMed]
Cui G et al: "Mutations at arginine 352 alter the pore architecture of CFTR."
No.
Sentence
Comment
30
Three cystic fibrosis (CF)-associated mutations have been identified at this position (R352G, R352W and R352Q), but the mechanisms by which these mutations cause disease are not clear (Cremonesi et al. 1992; Audre´zet et al. 1993; Brancolini et al. 1995).
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ABCC7 p.Arg352Gly 18421494:30:87
status: NEW281 Several R352 mutations are CF-associated mutations, including R352G, R352W and R352Q (Cremonesi et al. 1992; Audre´zet et al. 1993; Brancolini et al. 1995; Feldmann et al. 2003); similarly, D993Y and D993G are associated with disease (Tsui et al. 2007).
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ABCC7 p.Arg352Gly 18421494:281:62
status: NEW