Article
No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.
Human mutation - 1 Aug 2017
Wu Hao, Zhou Dai-Zhan, Berki Dorottya, Geisz Andrea, Zou Wen-Bin, Sun Xiao-Tian, Hu Liang-Hao, Zhao Zhen-Hua, Zhao An-Jing, He Lin, Cooper David N, Férec Claude, Chen Jian-Min, Li Zhao-Shen, Sahin-Tóth Miklós, Liao Zhuan
Abstract excerpt
Rare functionally defective carboxypeptidase A1 (CPA1) variants have been reported to predispose to nonalcoholic chronic pancreatitis, mainly the idiopathic subtype. However, independent replication has so far been lacking, particularly in Asian cohorts where initial studies employed small sample sizes. Herein we performed targeted next-generation sequencing of the CPA1 gene in 1,112 Han Chinese idiopathic...
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