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Titel:

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

Dokumenttyp:
Journal Article; Article
Autor(en):
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; Bodeker, H; Keim, V; Mössner, J; Teich, N; Sahin-Tóth, M
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...     »
Zeitschriftentitel:
Nat Genet
Jahr:
2008
Band / Volume:
40
Heft / Issue:
1
Seitenangaben Beitrag:
78-82
Sprache:
eng
Volltext / DOI:
doi:10.1038/ng.2007.44
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/18059268
Print-ISSN:
1061-4036
TUM Einrichtung:
Else Kröner-Fresenius-Zentrum für Ernährungsmedizin - Klinik für Ernährungsmedizin
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