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

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 is an imp...

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Detalles Bibliográficos
Autores principales: Zhang, Nini, Heruth, Daniel P., Wu, Weibin, Zhang, Li Qin, Nsumu, Marianne N., Shortt, Katherine, Li, Kelvin, Jiang, Xun, Wang, Baoxi, Friesen, Craig, Li, Ding-You, Ye, Shui Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518688/
https://www.ncbi.nlm.nih.gov/pubmed/31114672
http://dx.doi.org/10.1186/s13578-019-0303-1

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