Article
The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
Journal of pediatric gastroenterology and nutrition - 1 Apr 2023
Hirai Saeko, Suzuki Mitsuyoshi, Sakurai Yumiko, Nakano Satoshi, Minowa Kei, Eguchi Hidetake, Okazaki Yasushi, Shimizu Toshiaki
Abstract excerpt
OBJECTIVES: Recently, a genetic risk for chronic pancreatitis (CP) was found to be conferred by pathogenic variants in the transient receptor potential cation channel, subfamily V, member 6 ( TRPV6 ). Interestingly, 20%-57% of patients with functionally defective TRPV6 variants have other susceptibility genes such as cationic trypsinogen, serine protease inhibitor Kazal type 1, chymotrypsin C, cystic fibrosis...
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