PMID: 23207607

Larusch J, Whitcomb DC
Genetics of pancreatitis with a focus on the pancreatic ducts.
Minerva Gastroenterol Dietol. 2012 Dec;58(4):299-308., [PubMed]
Sentences
No. Mutations Sentence Comment
116 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 23207607:116:166
status: NEW
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 The complexity of considering CFTR mutations in pancreatitis is revealed in that specific statement in light of recent findings of a moderately frequent CFTR variant Arg75Gln, with selective loss of bicarbonate but not chloride conduction resulting in elevated risk for pancreatitis but not CF (59). Login to comment 119 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 23207607:119:143
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 23207607:119:162
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 23207607:119:155
status: NEW
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 These drugs have been reported and reviewed in a number of articles in detail, both in ongoing clinical trials and approved by FDA F508del and G551D (65), G542X, W1282X and all other premature termination mutations (66, 67), leading us to speculate on the impact or utility of these drugs on pancreatitis. Login to comment