Article
"Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis.
Molecular genetics and metabolism - 1 May 2003
Chen Jian-Min, Le Maréchal Cedric, Lucas Danièle, Raguénès Odile, Férec Claude
Abstract excerpt
Several genetic factors have been well known to predispose one to chronic pancreatitis (CP). However, little is known about the genetic factors that may provide a protective effect against the disease. Having found a nonsense mutation (c.111C>A; Y37X) and a splicing mutation (IVS2+1G>A) in the cationic trypsinogen gene (protease, serine, 1; PRSS1) in alcoholics without the development of CP, but not in alcoholics...
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