Article
Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis.
Human mutation - 1 Mar 2015
Rygiel Agnieszka Magdalena, Beer Sebastian, Simon Peter, Wertheim-Tysarowska Katarzyna, Oracz Grzegorz, Kucharzik Torsten, Tysarowski Andrzej, Niepokój Katarzyna, Kierkus Jarosław, Jurek Marta, Gawliński Paweł, Poznański Jarosław, Bal Jerzy, Lerch Markus M, Sahin-Tóth Miklós, Weiss Frank Ulrich
Abstract excerpt
Mutations of the human cationic trypsinogen gene (PRSS1) are frequently found in association with hereditary pancreatitis. The most frequent variants p.N29I and p.R122H are recognized as disease-causing mutations. Three pseudogene paralogs in the human trypsinogen family, including trypsinogen 6 (PRSS3P2), carry sequence variations in exon 3 that mimic the p.R122H mutation. In routine genetic testing of patients...
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