Article
SCGN deficiency results in colitis susceptibility.
eLife - 30 Oct 2019
Sifuentes-Dominguez Luis F, Li Haiying, Llano Ernesto, Liu Zhe, Singla Amika, Patel Ashish S, Kathania Mahesh, Khoury Areen, Norris Nicholas, Rios Jonathan J, Starokadomskyy Petro, Park Jason Y, Gopal Purva, Liu Qi, Tan Shuai, Chan Lillienne, Ross Theodora, Harrison Steven, Venuprasad K, Baker Linda A, Jia Da, Burstein Ezra
Abstract excerpt
Inflammatory bowel disease (IBD) affects 1.5-3.0 million people in the United States. IBD is genetically determined and many common risk alleles have been identified. Yet, a large proportion of genetic predisposition remains unexplained. In this study, we report the identification of an ultr arare missense variant (NM_006998.3:c.230G > A;p.Arg77His) in the SCGN gene causing Mendelian early-onset ulcerative...
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