Characterization of Disease-causing Mutations in the Chloride-Proton Antiporter ClC-5
Mutations in the chloride-proton antiporter, ClC-5, cause Dent’s disease, a kidney disease defined by excessive loss of proteins in the urine. ClC-5 resides on early endosomal membranes in proximal tubule epithelial cells, where it facilitates protein receptor-mediated endocytosis. Loss-of-function...
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| Language: | en_ca |
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2012
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| Online Access: | http://hdl.handle.net/1807/35515 |