Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis
MC Gorry, D Gabbaizedeh, W Furey, LK Gates… - …, 1997 - gastrojournal.org
BACKGROUND & AIMS: We recently identified a single R117H mutation in the cationic
trypsinogen gene in several kindreds with an inherited form of acute and chronic pancreatitis
(HP1), providing strong evidence that trypsin plays a central role in premature zymogen
activation and pancreatitis. However, not all families studied have this mutation. The aim of
this study was to determine the disease-causing mutation in kindreds with hereditary
pancreatitis that lack the previously identified mutation. METHODS: Clinical features of the …
trypsinogen gene in several kindreds with an inherited form of acute and chronic pancreatitis
(HP1), providing strong evidence that trypsin plays a central role in premature zymogen
activation and pancreatitis. However, not all families studied have this mutation. The aim of
this study was to determine the disease-causing mutation in kindreds with hereditary
pancreatitis that lack the previously identified mutation. METHODS: Clinical features of the …