Functional characterization of SLC26A3 c.392C>G (p.P131R) mutation in intestinal barrier function using CRISPR/CAS9-created cell models

Abstract Background Congenital chloride diarrhea (CCD) in a newborn is a rare autosomal recessive disorder with life-threatening complications, requiring early diagnostics and treatment to prevent severe dehydration and infant mortality. SLC26A3 rs386833481 (c.392C>G; p.P131R) gene polymorphism i...

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Bibliographic Details
Main Authors: Nini Zhang, Daniel P. Heruth, Weibin Wu, Li Qin Zhang, Marianne N. Nsumu, Katherine Shortt, Kelvin Li, Xun Jiang, Baoxi Wang, Craig Friesen, Ding-You Li, Shui Qing Ye
Format: Article
Language:English
Published: BMC 2019-05-01
Series:Cell & Bioscience
Subjects:
Online Access:http://link.springer.com/article/10.1186/s13578-019-0303-1