title: Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1).
abstract: 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.
authors.affiliation: INSERM EMI-01 15, Génétique Moléculaire et Génétique Epidémiologique, Etablissement Français du Sang-Bretagne, Université de Bretagne Occidentale, Centre Hospitalier Universitaire, 46 rue Félix Le Dantec, 29275 Brest, France.
authors.forename: C
authors.initials: C
authors.lastname: Le Maréchal
authors.forename: J F
authors.initials: JF
authors.lastname: Bretagne
authors.forename: O
authors.initials: O
authors.lastname: Raguénès
authors.forename: I
authors.initials: I
authors.lastname: Quéré
authors.forename: J M
authors.initials: JM
authors.lastname: Chen
authors.forename: C
authors.initials: C
authors.lastname: Ferec
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D020125:Mutation, Missense; D010195:Pancreatitis / Q000235:genetics*; D014357:Trypsin; D014362:Trypsinogen / Q000235:genetics*
chemical_list: D014362:Trypsinogen; D004247:DNA; C489303:PRSS1 protein, human; D014357:Trypsin