Article
Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] - 1 Jan 2000
Masamune Atsushi, Nakano Eriko, Niihori Tetsuya, Hamada Shin, Nagasaki Masao, Aoki Yoko, Shimosegawa Tooru
Abstract excerpt
BACKGROUND/OBJECTIVES: The UBR1 gene encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1. Loss-of-function mutations in the UBR1 gene cause Johanson-Blizzard syndrome, which involves pancreatic exocrine insufficiency. No previous studies have examined an association of UBR1 variants with pancreatitis, in part due to the large size of the gene. This study aimed to clarify whether UBR1 variants...
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