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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

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

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.[1]

References

  1. Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1). Le Maréchal, C., Bretagne, J.F., Raguénès, O., Quéré, I., Chen, J.M., Ferec, C. Mol. Genet. Metab. (2001) [Pubmed]
 
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