Article
Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis.
Clinical genetics - 1 Mar 2001
Chen J M, Piepoli Bis A, Le Bodic L, Ruszniewski P, Robaszkiewicz M, Deprez P H, Raguenes O, Quere I, Andriulli A, Ferec C
Abstract excerpt
Several missense mutations, including R122H, N29I, K23R, A16V and D22G, in the cationic trypsinogen gene (PRSS1), have been associated with certain forms of hereditary pancreatitis (HP). Their occurrence in the idiopathic chronic pancreatitis (ICP) and whether novel mutations could be identified in PRSS1 remain to be further evaluated. These were addressed by the mutational screening of the entire coding sequence...
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