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Article

A rare PRSS1 p.S127C mutation is associated with chronic pancreatitis and causes misfolding-induced ER-stress.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] - 1 Dec 2022

Thiel Franziska, Reiser Markus, Weiss Frank Ulrich

Abstract excerpt

BACKGROUND: /Objectives: Sequence variants in several genes have been identified as being associated with an increased inherited risk to develop chronic pancreatitis (CP). In a genetic survey of a CP patient we identified in the PRSS1gene a new c.380C > G sequence variation, giving rise to a non-synonymous p.S127C mutation. Functional studies were performed to analyze the associated pathophysiology of the...

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PMID: 36369231
DOI: 10.1016/j.pan.2022.10.005

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