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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Dades bibliogràfiques
Publicat a:Front Genet
Autors principals: Jancsó, Zsanett, Oracz, Grzegorz, Kujko, Aleksandra Anna, Kolodziejczyk, Eliwira, Radisky, Evette S., Rygiel, Agnieszka Magdalena, Sahin-Tóth, Miklós
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2019
Matèries:
Genetics
Accés en línia: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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