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Document type:
journal article 
Author(s):
Rosendahl, J; Witt, H; Szmola, R; Bhatia, E; Ozsvári, B; Landt, O; Schulz, HU; Gress, TM; Pfützer, R; Löhr, M; Kovacs, P; Blüher, M; Stumvoll, M; Choudhuri, G; Hegyi, P; te Morsche, RH; Drenth, JP; Truninger, K; Macek, M; Puhl, G; Witt, U; Schmidt, H; Büning, C; Ockenga, J; Kage, A; Groneberg, DA; Nickel, R; Berg, T; Wiedenmann, B; Bödeker, H; Keim, V; Mössner, J; Teich, N; Sahin-Tóth, M 
Title:
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis. 
Abstract:
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 pancreatitis group, being present in 30 of 901 (3.3%) affected individuals but only 21...    »
 
Journal title abbreviation:
Nat Genet 
Year:
2008 
Journal volume:
40 
Journal issue:
Pages contribution:
78-82 
Language:
eng 
Print-ISSN:
1061-4036 
TUM Institution:
hrungsmedizin