Hereditary pancreatitis caused by triplication of the trypsinogen locus
✍ Scribed by Le Maréchal, Cédric; Masson, Emmanuelle; Chen, Jian-Min; Morel, Frédéric; Ruszniewski, Philippe; Levy, Philippe; Férec, Claude
- Book ID
- 109919452
- Publisher
- Nature Publishing Group
- Year
- 2006
- Tongue
- English
- Weight
- 208 KB
- Volume
- 38
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/ng1904
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Hereditary pancreatitis (OMIM 167800) is thought to be associated with a mutation of the exon 3 of cationic trypsinogen (Nature Genet (1996): 14:141-145). This paper reports sequence data of two independent families suffering from this disease. PCR amplificates from leukocyte or buccal swab DNA show
We investigated the biochemical properties and cellular expression of the c.346C>T (p.R116C) human cationic trypsinogen (PRSS1) mutant, which we identified in a German family with autosomal dominant hereditary pancreatitis. This mutation leads to an unpaired Cys residue with the potential to interfe
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