Article
Chronic pancreatitis: genetics and pathogenesis.
Annual review of genomics and human genetics - 1 Jan 2009
Chen Jian-Min, Férec Claude
Abstract excerpt
Chronic pancreatitis (CP) is a persistent inflammation of the pancreas. Over the past 12 years, genetic studies of hereditary, familial, and idiopathic forms of CP have made great progress in defining the disease pathogenesis. Identification of gain-of-function missense and copy number mutations in the cationic trypsinogen gene (PRSS1) and loss-of-function variants in both the pancreatic secretory trypsin...
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