Article
Assessing the pathological relevance of SPINK1 promoter variants.
European journal of human genetics : EJHG - 1 Oct 2011
Boulling Arnaud, Witt Heiko, Chandak Giriraj Ratan, Masson Emmanuelle, Paliwal Sumit, Bhaskar Seema, Reddy D Nageshwar, Cooper David N, Chen Jian-Min, Férec Claude
Abstract excerpt
The SPINK1 gene, encoding the human pancreatic secretory trypsin inhibitor, is one of the major genes involved in predisposition to chronic pancreatitis (CP). In this study we have assessed the potential functional impact of 11 SPINK1 promoter variants by means of both luciferase reporter gene assay and electrophoretic mobility shift assay (EMSA), using human pancreatic COLO-357 cells as an expression system. The...
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