Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients

Dent disease type 1, an X‐linked inherited kidney disease is caused by mutations in electrogenic Cl(−)/H(+) exchanger, ClC‐5. We functionally studied the most frequent mutation (S244L) and two mutations recently identified in RKSC patients, Q629X and R345W. We also studied T657S, which has a high mi...

Descripción completa

Detalles Bibliográficos
Autores principales: Tang, Xiaojing, Brown, Matthew R., Cogal, Andrea G., Gauvin, Daniel, Harris, Peter C., Lieske, John C., Romero, Michael F., Chang, Min‐Hwang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4848727/
https://www.ncbi.nlm.nih.gov/pubmed/27117801
http://dx.doi.org/10.14814/phy2.12776

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4848727/
https://www.ncbi.nlm.nih.gov/pubmed/27117801
http://dx.doi.org/10.14814/phy2.12776

Ejemplares similares