PMID: 18647844

Webb EM, Kleinhenz ME, Coakley FV, Chang CI, Westphalen AC, Yeh BM
Colonic wall redundancy at CT in patients with cystic fibrosis.
Radiology. 2008 Sep;248(3):869-75. Epub 2008 Jul 22., [PubMed]
Sentences
No. Mutations Sentence Comment
86 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18647844:86:19
status: NEW
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 In particular, the G542X mutation was seen exclusively in patients with colonic wall redundancy (three [30%] of 10 patients, P ϭ .06). Login to comment 96 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 18647844:96:111
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 18647844:96:59
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18647844:96:42
status: NEW
view ABCC7 p.Gly542* details
 * Non-⌬F508 gene mutations include G542X, 3905insT, R347P, 711ϩ1GϾT, 3120ϩ1GϾA, W1282X, and 1161delC. Login to comment 126 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18647844:126:31
status: NEW
view ABCC7 p.Gly542* details
 The next most common mutation, G542X, accounts for only 2.4% of mutations (13). Login to comment