Novel p.K374E variant of CPA1 causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance

Abstract excerpt

We read the publication written by Lin et al 1 with great interest. The authors suggest that the majority of functionally defective carboxypeptidase A1 ( CPA1) mutations can elicit reduced expression due to nonsense-mediated decay (NMD) and therefore, only a small subset of the earlier reported CPA1 variants2 will predispose to chronic pancreatitis (CP) via the misfolding-dependent pathway.3 This paper seemingly...

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