| Literature DB >> 11708864 |
C Le Maréchal1, J F Bretagne, O Raguénès, I Quéré, J M Chen, C Ferec.
Abstract
Over the past 5 years, several gain-of-function missense mutations in the human cationic trypsinogen gene (PRSS1, OMIM 276000) have been associated with hereditary and/or sporadic pancreatitis. This study reports a new pancreatitis-associated mutation--R116C (CGT > TGT: c.346C > T)--in the gene. Copyright 2001 Academic Press.Entities:
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Year: 2001 PMID： 11708864 DOI： 10.1006/mgme.2001.3246
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797