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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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| Pubblicato in: | Front Genet |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Frontiers Media S.A.
2019
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| Soggetti: | |
| Accesso online: | 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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