Identification of a Novel Pancreatitis-Associated Missense Mutation, R116C, in the Human Cationic Trypsinogen Gene (PRSS1)

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....

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Bibliographic Details
Published in:Molecular genetics and metabolism 2001-11, Vol.74 (3), p.342-344
Main Authors: Le Maréchal, Cedric, Bretagne, Jean-François, Raguénès, Odile, Quéré, Isabelle, Chen, Jian-Min, Ferec, Claude
Format: Article
Language:English
Subjects:
Base Sequence
denaturing high-performance liquid chromatography
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
gain of function
hereditary pancreatitis
human cationic trypsinogen gene
Humans
idiopathic chronic pancreatitis
missense mutation
Mutation, Missense
mutational analysis
Pancreatitis - genetics
Trypsin
Trypsinogen - genetics
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Summary: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.
ISSN:1096-7192
1096-7206
DOI:10.1006/mgme.2001.3246