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Gain-of-Function Mutations Associated with Hereditary Pancreatitis Enhance Autoactivation of Human Cationic Trypsinogen

✍ Scribed by Miklós Sahin-Tóth; Miklós Tóth


Book ID
115586877
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
57 KB
Volume
278
Category
Article
ISSN
0006-291X

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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