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Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation

✍ Scribed by Emmanuelle Masson; Cédric Le Maréchal; Richard Delcenserie; Jian-Min Chen; Claude Férec


Book ID
106134694
Publisher
Springer
Year
2008
Tongue
English
Weight
475 KB
Volume
123
Category
Article
ISSN
0340-6717

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✍ Éva Kereszturi; Richárd Szmola; Zoltán Kukor; Peter Simon; Frank Ulrich Weiss; M 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 269 KB

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