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Dokumenttyp:
journal article 
Autor(en):
Boulling, A; Witt, H; Chandak, GR; Masson, E; Paliwal, S; Bhaskar, S; Reddy, DN; Cooper, DN; Chen, JM; Férec, C 
Titel:
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...    »
 
Zeitschriftentitel:
Eur J Hum Genet 
Jahr:
2011 
Band / Volume:
19 
Heft / Issue:
10 
Seitenangaben Beitrag:
1066-73 
Sprache:
eng 
Print-ISSN:
1018-4813 
TUM Einrichtung:
Kinderklinik und Poliklinik