Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis.

doi:10.1016/j.pan.2020.01.011

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Article

Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] - 1 Apr 2020

Fjeld Karianne, Masson Emmanuelle, Lin Jin-Huan, Michl Patrick, Stokowy Tomasz, Gravdal Anny, El Jellas Khadija, Steine Solrun J, Hoem Dag, Johansson Bente B, Dalva Monica, Ruffert Claudia, Zou Wen-Bin, Li Zhao-Shen, Njølstad Pål R, Chen Jian-Min, Liao Zhuan, Johansson Stefan, Rosendahl Jonas, Férec Claude, Molven Anders

Abstract excerpt

BACKGROUND/OBJECTIVES: Carboxyl ester lipase is a pancreatic enzyme encoded by CEL, an extremely polymorphic human gene. Pathogenic variants of CEL either increases the risk for chronic pancreatitis (CP) or cause MODY8, a syndrome of pancreatic exocrine and endocrine dysfunction. Here, we aimed to characterize a novel duplication allele of CEL (CEL-DUP2) and to investigate whether it associates with CP or...

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PMID: 32007358
DOI: 10.1016/j.pan.2020.01.011

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