Functional characterization of SLC26A3 c.392C>G (p.P131R) mutation in intestinal barrier function using CRISPR/CAS9-created cell models
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Biochemistry, Genetics and Molecular Biology
Link
http://link.springer.com/content/pdf/10.1186/s13578-019-0303-1.pdf
Reference35 articles.
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3. Wedenoja S, Pekansaari E, Höglund P, Mäkelä S, Holmberg C, Kere J. Update on SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat. 2011;32(7):715–22.
4. Ziki MDA, Verjee MA. Case report: rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis. BMJ Case Rep. 2015. https://doi.org/10.1136/bcr-2014-206849 .
5. Matsunoshita N, Nozu K, Yoshikane M, Kawaguchi A, Fujita N, Morisada N, et al. Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. J Hum Genet. 2018;63(8):887–92.
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