Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis

Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis

Mutations in the PRSS1 (serine protease 1) gene encoding human cationic trypsinogen cause hereditary pancreatitis or may be associated with sporadic chronic pancreatitis. The mutations exert their pathogenic effect either by increasing intra-pancreatic trypsinogen activation (trypsin pathway) or by...

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Bibliographic Details
Main Authors: Zsanett Jancsó, Grzegorz Oracz, Aleksandra Anna Kujko, Eliwira Kolodziejczyk, Evette S. Radisky, Agnieszka Magdalena Rygiel, Miklós Sahin-Tóth
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Genetics
Subjects:
pancreas
hereditary pancreatitis
autoactivation
trypsinogen mutant
digestive protease
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00046/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00046/full

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