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PMID: 15479696
Whitcomb DC
Value of genetic testing in the management of pancreatitis.
Gut. 2004 Nov;53(11):1710-7.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
62
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15479696:62:254
status:
NEW
view ABCC7 p.Arg117His details
Most cases of hereditary pancreatitis are associated with mutations in the cationic trypsinogen gene (PRSS1).17 18 Although nearly 20 pancreatitis associated mutations in the PRSS1 gene have been described, the R122H and N29I mutations (also numbered as
R117H
and N21I using the chymotrypsinogen amino acid numbering system) represent the vast majority of cases.
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