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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Detalles Bibliográficos
Autores principales: Jancsó, Zsanett, Oracz, Grzegorz, Kujko, Aleksandra Anna, Kolodziejczyk, Eliwira, Radisky, Evette S., Rygiel, Agnieszka Magdalena, Sahin-Tóth, Miklós
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375306/
https://www.ncbi.nlm.nih.gov/pubmed/30792736
http://dx.doi.org/10.3389/fgene.2019.00046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375306/
https://www.ncbi.nlm.nih.gov/pubmed/30792736
http://dx.doi.org/10.3389/fgene.2019.00046

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