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Article

<i>SPINK1</i> mutations and phenotypic expression in patients with pancreatitis associated with trypsinogen mutations

1 Apr 2003

Abstract excerpt

Hereditary pancreatitis (HP) is an inborn disorder which leads to recurrent episodes of pancreatitis in children and young adults and is associated with exocrine pancreatic insufficiency and secondary diabetes.1–3 Several germline mutations in the cationic trypsinogen ( PRSS1 ) gene have been found to be associated with the disease phenotype, the most common of which are the R122H, N29I, and A16V mutations.4–6...

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PMID: 12676913
DOI: 10.1136/jmg.40.4.e40

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