Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1).

@article{Marchal2001IdentificationOA,
  title={Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1).},
  author={C{\'e}dric Le Mar{\'e}chal and J. F. Bretagne and Odile Ragu{\'e}n{\`e}s and Isabelle Qu{\'e}r{\'e} and Jian-Min Chen and Claude F{\'e}rec},
  journal={Molecular genetics and metabolism},
  year={2001},
  volume={74 3},
  pages={342-4}
}
Over the past 5 years, several gain-of-function missense mutations in the human cationic trypsinogen gene (PRSS1, OMIM 276000) have been associated with hereditary and/or sporadic pancreatitis. This study reports a new pancreatitis-associated mutation--R116C (CGT > TGT: c.346C > T)--in the gene.