PMID: 21844754

LaRusch J, Whitcomb DC
Genetics of pancreatitis.
Curr Opin Gastroenterol. 2011 Sep;27(5):467-74., [PubMed]
Sentences
No. Mutations Sentence Comment
60 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 21844754:60:165
status: NEW
view ABCC7 p.Arg75Gln details
 A recent study from the NAPS2 consortium and the Pittsburgh Hereditary Pancreatitis Study, published in Gastroenterology in January 2011, demonstrated that the CFTR R75Q variant increased risk for chronic pancreatitis but does not increase risk for lung disease [18 ]. Login to comment 61 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 21844754:61:99
status: NEW
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 Analysis of both familial and sporadic nonalcoholic pancreatitis cases identified both F508del and R75Q as the most frequent CFTR variants over-represented in patients. Login to comment 62 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 21844754:62:46
status: NEW
view ABCC7 p.Arg75Gln details
 Functional studies also demonstrated that the R75Q variant specifically disrupted bicarbonate but not chloride secretion. Login to comment