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...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-05-01
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Series: | Cell & Bioscience |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13578-019-0303-1 |