Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene

@article{Masson2006DetectionOA,
  title={Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene},
  author={Emmanuelle Masson and C{\'e}dric Le Mar{\'e}chal and Jian-Min Chen and Thierry 11 Fr{\'e}bourg and Eric Lerebours and Claude F{\'e}rec},
  journal={European Journal of Human Genetics},
  year={2006},
  volume={14},
  pages={1204-1208}
}
Mutations and polymorphisms in the SPINK1 gene, which encodes trypsin's physiological inhibitor, pancreatic secretory trypsin inhibitor, have been found to be associated with chronic pancreatitis. However, to date, all currently reported SPINK1 variants are either single-nucleotide substitutions or microinsertions/deletions. It is possible that large genomic rearrangements at this locus may underlie certain cases of chronic pancreatitis. However, such events, if indeed they exist, may have been… CONTINUE READING

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