Germline mutations and gene polymorphism associated with human pancreatitis.

Abstract excerpt

A wide range of mutations and polymorphisms in genes that relate to pancreatic function seem to be involved in the development of pancreatitis. Some of these genetic alterations lead to disease phenotypes with unequivocal mendelian inheritance patterns, whereas others seem to act as modifier genes in conjunction with environ-mental or, as yet unidentified, genetic cofactors. This article reviews germline changes...

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• Cathepsin B
• Cystic Fibrosis Transmembrane Conductance Regulator
• Germ-Line Mutation
• Pancreatitis
• Point Mutation