Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation

Abstract excerpt

BACKGROUND/AIMS: Mutations of the SPINK1 gene encoding pancreatic secretory trypsin inhibitor have been identified in association with chronic pancreatitis. The vast majority of patients carry the N34S variant, whereas other genetic variants are relatively rare and their disease association is uncertain. The aim of this study was to characterise and compare the functional defects caused by the six published...

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