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Document type:
journal article 
Author(s):
Schnúr, A; Beer, S; Witt, H; Hegyi, P; Sahin-Tóth, M 
Title:
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis. 
Abstract:
Hereditary pancreatitis is caused by mutations in human cationic trypsinogen (PRSS1) which lead to increased autoactivation by altering chymotrypsin C (CTRC)-dependent trypsinogen activation and degradation. Exceptions are some cysteine mutations which cause misfolding, intracellular retention and endoplasmic reticulum stress. Clinical relevance of many PRSS1 variants found in patients with sporadic chronic pancreatitis is unknown but often assumed by analogy with known disease-causing mutations...    »
 
Journal title abbreviation:
Gut 
Year:
2014 
Journal volume:
63 
Journal issue:
Pages contribution:
337-43 
Language:
eng 
Print-ISSN:
0017-5749 
TUM Institution:
Klinik für Ernährungsmedizin