Article
The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families.
Gut - 1 Mar 2010
Grocock Christopher J, Rebours Vinciane, Delhaye Myriam N, Andrén-Sandberg Ake, Weiss Frank Ulrich, Mountford Roger, Harcus Matthew J, Niemczyck Edyta, Vitone Louis J, Dodd Susanna, Jørgensen Maiken Thyregod, Ammann Rudolf W, Schaffalitzky de Muckadell Ove, Butler Jane V, Burgess Phillip, Kerr Bronwyn, Charnley Richard, Sutton Robert, Raraty Michael G, Devière Jacques, Whitcomb David C, Neoptolemos John P, Lévy Philippe, Lerch Markus M, Greenhalf William
Abstract excerpt
OBJECTIVE: To characterise the phenotypes associated with the p.A16V mutation of PRSS1. DESIGN: Clinical and epidemiological data were collected for any family in which a p.A16V mutation was identified, either referred directly to the European Registry of Hereditary Pancreatitis and Familial Panc...
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