hereditary pancreatitis
Etiology
’gain-of-function’ missense mutations in the cationic trypsinogen gene (PRSS1).
- triplication and gain of trypsin through a gene dosage effect (17072318)
References
Le Marechal C, Masson E, Chen JM, Morel F, Ruszniewski P, Levy P, Ferec C. Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat Genet. 2006 Oct 29; PMID: 17072318