Hereditary pancreatitis and mutation of the trypsinogen gene

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Abstract

Hereditary pancreatitis is a rare form of chronic recurrent pancreatitis.A family, in which 11 members had chronic pancreatitis, five had diabetes, and two had pancreatic cancer, was studied, and hereditary pancreatitis was diagnosed in all patients by demonstrating the mutation in exon 3 of the cationic trypsinogen gene (R117H). The clinical implications of genotypic analysis in hereditary pancreatitis are discussed.

(Arch Dis Child 1999;80:473-474)

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