Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study

Hereditary pancreatitis (HP) is an autosomal-dominant disease with incomplete penetrance manifesting as early-onset chronic relapsing pancreatitis. A mutation in the PRSS1 gene is present in greater than 70% of HP kindreds and leads to a gain-of-function characterized by the increased autocatalytic...

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Detalles Bibliográficos
Autores principales: Dytz, Marcio Garrison, Mendes de Melo, Julia, de Castro Santos, Olga, da Silva Santos, Isabel Durso, Rodacki, Melanie, Conceição, Flavia Lucia, Ortiga-Carvalho, Tania Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2015
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4635809/
https://www.ncbi.nlm.nih.gov/pubmed/26376395
http://dx.doi.org/10.1097/MD.0000000000001508

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