Article
CALCB splice region pathogenic variants leading to plasma cell neurotropic enrichment in type 1 autoimmune pancreatitis.
Cell death & disease - 2 Feb 2017
Liu Qi-Cai, Chen Falin, Wu Chao-Yang, Gao Feng, Zhuang Ze-Hao, Chen Jin-Tong, Cai Bin, Zhang Tianming, Guo Ling, Lin Li-Qing, Zhao Cheng-Fei, Lin Xin-Hua
Abstract excerpt
Recently, we have demonstrated that PRSS1 mutations cause ectopic trypsinogen activation and thereby result in type 1 autoimmune pancreatitis (AIP). However, the molecules involved in inducing obliterative vasculitis and perineural inflammation in the pancreas are not well-described. The present study applied whole-exome sequencing (WES) to determine the underlying etiology and revealed novel missense splice...
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