Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.

@article{Marchal2004TwoNS,
  title={Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.},
  author={C{\'e}dric Le Mar{\'e}chal and Jian-Min Chen and C{\'e}line Le Gall and Ghislaine Plessis and Jacques Chipponi and Nadia A. Chuzhanova and Odile Ragu{\'e}n{\`e}s and Claude F{\'e}rec},
  journal={Human mutation},
  year={2004},
  volume={23 2},
  pages={205}
}
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 families, each including at least two pancreatitis patients and carrying neither… CONTINUE READING

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