Whole Exome Sequencing Identifies Two Novel Mutations in a Patient with UC Associated with PSC and SSA

CONCLUSIONS: The present study demonstrated that the ITGB4 (c.C2503G; p.P835A) and MUC3A (c.C1019T; p.P340L) mutations may be the potential causative variants in a patient with UC associated with PSC and SSA. TP53 (c.86delA; p.N29Tfs ∗ 15) mutation may be associated with SSA in this patient.PMID:34545326 | PMC:PMC8449715 | DOI:10.1155/2021/9936932

Source: Canadian Journal of Gastroenterology - September 21, 2021 Category: Gastroenterology Authors: Dong Wu Dan Chen Wen Shi Wei Liu Weixun Zhou Jiaming Qian Source Type: research