Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

doi:10.1038/ng.2007.44

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Article

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

Nature genetics - 1 Jan 2008

Rosendahl Jonas, Witt Heiko, Szmola Richárd, Bhatia Eesh, Ozsvári Béla, Landt Olfert, Schulz Hans-Ulrich, Gress Thomas M, Pfützer Roland, Löhr Matthias, Kovacs Peter, Blüher Matthias, Stumvoll Michael, Choudhuri Gourdas, Hegyi Péter, te Morsche René H M, Drenth Joost P H, Truninger Kaspar, Macek Milan, Puhl Gero, Witt Ulrike, Schmidt Hartmut, Büning Carsten, Ockenga Johann, Kage Andreas, Groneberg David Alexander, Nickel Renate, Berg Thomas, Wiedenmann Bertram, Bödeker Hans, Keim Volker, Mössner Joachim, Teich Niels, Sahin-Tóth Miklós

Abstract excerpt

Chronic pancreatitis is a persistent inflammatory disease of the pancreas, in which the digestive protease trypsin has a fundamental pathogenetic role. Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis. Two alterations in this gene, p.R254W and p.K247_R254del, were significantly overrepresented in the...

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PMID: 18059268
DOI: 10.1038/ng.2007.44
PMCID: PMC2650829

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CTRC

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