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Hereditary pancreatitis caused by mutation induced misfolding of human cationic trypsinogen - a novel disease mechanism
We investigated the biochemical properties and cellular expression of the c.346C>T (p.R116C) human cationic trypsinogen (PRSS1) mutant, which we identified in a German family with autosomal dominant hereditary pancreatitis. This mutation leads to an unpaired Cys residue with the potential to inte...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2663013/ https://ncbi.nlm.nih.gov/pubmed/19191323 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20853 |
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