Article
Copy number variations in chronic pancreatitis.
Cytogenetic and genome research - 1 Jan 2008
Chen J M, Masson E, Le Maréchal C, Férec C
Abstract excerpt
In 1996, shortly after a locus for hereditary pancreatitis had been mapped to chromosome 7q35, an apparent gain-of-function missense mutation, p.R122H, in the cationic trypsinogen gene (PRSS1) was identified. Thereafter, the search for chronic pancreatitis-associated genetic factors has been largely focused on one form of genetic variation, namely, single nucleotide substitutions (SNSs). Only very recently has...
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