Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene

作者: David C. Whitcomb , Michael C. Gorry , Robert A. Preston , William Furey , Michael J. Sossenheimer

DOI: 10.1038/NG1096-141

关键词: GeneticsTrypsinPancreatitisPancreatic diseaseTrypsinogen activationGenetic disorderTrypsinogenPRSS2BiologyHereditary 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 …

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