Article
A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance.
Gut - 1 May 2006
Khalid A, Finkelstein S, Thompson B, Kelly L, Hanck C, Godfrey T E, Whitcomb D C
Abstract excerpt
BACKGROUND: The cationic trypsinogen (PRSS1) R122H mutation causes autosomal dominant hereditary pancreatitis (HP) with multiple attacks of acute pancreatitis, but the penetrance, frequency, and severity of attacks are highly variable. HP twins study suggests that modifier genes influence severity but not penetrance. AIM: To investigate potential trypsin associated factors in subjects with the PRSS1 R122H...
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