Article
Screening for human cationic trypsinogen (PRSS1) and trypsinogen inhibitor gene (SPINK1) mutations in a Finnish family with hereditary pancreatitis.
Scandinavian journal of gastroenterology - 1 Aug 2007
Räty Sari, Piironen Anneli, Babu Mohan, Pelli Hanna, Sand Juhani, Uotila Sanna, Nordback Isto, Herzig Karl-Heinz
Abstract excerpt
OBJECTIVE: Mutations in the cationic trypsinogen gene (PRSS1) have been linked with hereditary pancreatitis (HP). A change in R122H in the third exon is one of the mutations most frequently associated with HP. A mutation N34S in the serine protease inhibitor Kazal type 1 gene has also been shown to be linked with HP. The purpose of this study was to report on the incidence of PRSS1 and SPINK1 mutations in a...
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