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Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.
|Title||Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.|
|Publication Type||Journal Article|
|Year of Publication||2013|
|Authors||Wang W, Sun X-T, Weng X-L, Zhou D-Z, Sun C, Xia T, Hu L-H, Lai X-W, Ye B, Liu M-Y, Jiang F, Gao J, Bo L-M, Liu Y, Liao Z, Li Z-S|
Genetic alterations may contribute to chronic pancreatitis (CP) in Chinese young patients. This study was designed to investigate mutations of cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor or serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator (CFTR), chymotrypsin C (CTRC) and CLDN2 genes and the copy number variations (CNVs) of PRSS1 and asses associations with the development of idiopathic CP (ICP) in Chinese children.
|Alternate Journal||BMJ Open|