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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Veröffentlicht in:	Medicine (Baltimore) 2015-09, Vol.94 (37), p.e1508-e1508
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Carrier Proteins - genetics Case-Control Studies Child Child, Preschool Humans Mutation, Missense Observational Study Pancreatitis - genetics Trypsin - genetics Trypsin Inhibitor, Kazal Pancreatic
Online-Zugang:	Volltext
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