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Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study.

Gut and liver - 15 Nov 2022

Hong Hee Seung, Baek Jiwon, Park Jae Chul, Lee Ho-Su, Park Dohoon, Yoon A-Ran, Park Soo Jung, Hong Sung Noh, Koh Seong-Joon, Lee Chang Kyun, Lee Bo-In, Hwang Sung Wook, Park Sang Hyoung, Myung Seung-Jae, Yang Suk-Kyun, Song Kyuyoung, Ye Byong Duk

Abstract excerpt

Background/Aims: Chronic enteropathy associated with SLCO2A1 gene (CEAS), an inherited disease characterized by nonspecific intestinal ulcers, has emerged in the Japanese population via loss-of-function mutations in the SLCO2A1 gene. We aimed to investigate the clinical and genetic characteristics of Korean patients diagnosed with CEAS. Methods: From July 2018 to July 2021, we performed Sanger sequencing of the...

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PMID: 35611666
DOI: 10.5009/gnl210415
PMCID: PMC9668493

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