Article
Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen.
The Journal of biological chemistry - 15 Feb 2002
Simon Peter, Weiss F Ulrich, Sahin-Toth Miklos, Parry Marina, Nayler Oliver, Lenfers Berthold, Schnekenburger Jurgen, Mayerle Julia, Domschke Wolfram, Lerch Markus M
Abstract excerpt
Hereditary pancreatitis has been found to be associated with germline mutations in the cationic trypsinogen (PRSS1) gene. Here we report a family with hereditary pancreatitis that carries a novel PRSS1 mutation (R122C). This mutation cannot be diagnosed with the conventional screening method using AflIII restriction enzyme digest. We therefore propose a new assay based on restriction enzyme digest with BstUI, a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.