title: [Hereditary pancreatitis caused by a new mutation in the trypsinogen gene. Report of a family].
abstract: Hereditary pancreatitis is an uncommon autosomal dominant disease secondary to a mutation normally located in the trypsinogen gene, preventing trypsin deactivation. This mutation translates clinically into recurrent attacks of acute pancreatitis and an increased risk of pancreatic cancer. We report a case of acute hereditary pancreatitis due to a trypsinogen mutation that has previously been described in only one family.
authors.affiliation: Unidad de Genética Molecular, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Carbonell
authors.forename: G
authors.initials: G
authors.lastname: Glover
authors.forename: J A
authors.initials: JA
authors.lastname: Fernández
authors.forename: M
authors.initials: M
authors.lastname: Ramírez
authors.forename: C
authors.initials: C
authors.lastname: Marín
authors.forename: G
authors.initials: G
authors.lastname: Castellanos
authors.forename: P
authors.initials: P
authors.lastname: Parrilla
mesh_terms: D002648:Child; D006801:Humans; D008297:Male; D009154:Mutation; D010195:Pancreatitis / Q000235:genetics*; D010375:Pedigree; D014362:Trypsinogen / Q000235:genetics*
chemical_list: D014362:Trypsinogen