Article

R116C mutation in PRSS1 gene causes hereditary pancreatitis and elevated creatine kinase in one child：a case report

2021-04-14

Abstract excerpt

<title>Abstract</title> <p>Background Functionally acquired mutations in the PRSS1 gene can lead to autosomal dominant hereditary pancreatitis (Hereditary Pancreatitis, HP). The most frequently reported mutation sites are R122H, N29I, A16V, and R122C. R116C mutation was less frequently reported to be associated with HP. Moreover, there are few reports about association of hereditary pancreatitis with elevated cr...

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Literature Corpus work: 4c20cffd-2327-5a96-b50d-a6e66724b981
DOI: 10.21203/rs.3.rs-405426/v1

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