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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Gardado en:
Detalles Bibliográficos
Publicado en:Front Genet
Main Authors: Jancsó, Zsanett, Oracz, Grzegorz, Kujko, Aleksandra Anna, Kolodziejczyk, Eliwira, Radisky, Evette S., Rygiel, Agnieszka Magdalena, Sahin-Tóth, Miklós
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2019
Assuntos:
Genetics
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6375306/
https://ncbi.nlm.nih.gov/pubmed/30792736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00046
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