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Document type:
Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):
Boulling, A; Witt, H; Chandak, GR; Masson, E; Paliwal, S; Bhaskar, S; Reddy, DN; Cooper, DN; Chen, JM; Férec, C
Title:
Assessing the pathological relevance of SPINK1 promoter variants.
Abstract:
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 11 promoter variants were found to be separable into three distinct categories on t...     »
Journal title abbreviation:
Eur J Hum Genet
Year:
2011
Journal volume:
19
Journal issue:
10
Pages contribution:
1066-73
Language:
eng
Fulltext / DOI:
doi:10.1038/ejhg.2011.79
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/21610753
Print-ISSN:
1018-4813
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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