Evidence for a common mutation in hereditary pancreatitis.

doi:10.1136/mp.51.2.115

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Article

Evidence for a common mutation in hereditary pancreatitis.

Molecular pathology : MP - 1 Apr 1998

Bell S M, Bennett C, Markham A F, Lench N J

Abstract excerpt

Hereditary pancreatitis is an autosomal dominant disorder with incomplete penetrance. It is characterised by recurring episodes of severe abdominal pain and often presents in childhood. Recently, a mutation in the cationic trypsinogen gene was identified in this disease. Previously, only one muta...

Topics

Chronic Disease
Female
Humans
Male
Mutation
Pancreatitis
Pedigree
Polymerase Chain Reaction
Recurrence
Trypsinogen

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