Article
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
Human mutation - 1 Feb 2004
Le Maréchal C, Chen J M, Le Gall C, Plessis G, Chipponi J, Chuzhanova N A, Raguénès O, Férec C
Abstract excerpt
Mutations in the serine protease inhibitor Kazal type 1 gene (SPINK1) encoding pancreatic secretory trypsin inhibitor (PSTI) have recently been found to be associated with chronic pancreatitis. Nevertheless, knowledge of severe mutations is particularly scarce, both in terms of number and in the extent of clinical information. The aim of this study was to expand the known spectrum of such mutations. 46 unrelated...
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