Gene Conversion between Cationic Trypsinogen (PRSS1) and the Pseudogene Trypsinogen 6 (PRSS3P2) in Patients with Chronic Pancreatitis

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 (PR...

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Pubblicato in:Hum Mutat
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4361298/
https://ncbi.nlm.nih.gov/pubmed/25546417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22747
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