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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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Библиографические подробности
Опубликовано в: :Hum Mutat
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: 2015
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Online-ссылка: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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