Article
Local clustering of PRSS1 R122H mutations in hereditary pancreatitis patients from Northern Germany.
The American journal of gastroenterology - 1 Oct 2008
Weiss Frank Ulrich, Zenker Martin, Ekici Arif Bülent, Simon Peter, Mayerle Julia, Lerch Markus M
Abstract excerpt
OBJECTIVE: The R122H mutation represents the most common point mutation of the cationic trypsinogen gene (PRSS1) in patients with hereditary pancreatitis (HP; Online Mendelian inheritance in man [OMIM] 167800), a rare variety of chronic pancreatitis. We identified a large number of HP families carrying this mutation in a confined region of Northern Germany within a 100-km radius. This apparent clustering could be...
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