作者: David C. Whitcomb , Michael C. Gorry , Robert A. Preston , William Furey , Michael J. Sossenheimer
DOI: 10.1038/NG1096-141
关键词: Genetics 、 Trypsin 、 Pancreatitis 、 Pancreatic disease 、 Trypsinogen activation 、 Genetic disorder 、 Trypsinogen 、 PRSS2 、 Biology 、 Hereditary pancreatitis
摘要: Hereditary pancreatitis (HP) is a rare, early-onset genetic disorder characterized by epigastric pain and often more serious complications. We now report that an Arg–His substitution at …