Article
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.
Gastroenterology - 1 Sept 2000
Pfützer R H, Barmada M M, Brunskill A P, Finch R, Hart P S, Neoptolemos J, Furey W F, Whitcomb D C
Abstract excerpt
BACKGROUND & AIMS: Gain-of-function trypsin mutations cause acute pancreatitis and chronic pancreatitis. Loss of trypsin inhibitor function may have similar effects. We investigated the prevalence of SPINK1 (PSTI) mutations in familial pancreatitis, idiopathic chronic pancreatitis, and controls. METHODS: Genetic-linkage studies were performed in 5 familial pancreatitis families. The entire SPINK1 gene was...
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