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pro vyhledávání: '"Leigh Wellhauser"'
Autor:
Christina D’Antonio, Leigh Wellhauser, Christine E. Bear, Ling-Jun Huan, Saumel Ahmadi, Steven Molinski
Publikováno v:
The Biochemical journal. 452(3)
Mutations in the CLCN5 (chloride channel, voltage-sensitive 5) gene cause Dent's disease because they reduce the functional expression of the ClC-5 chloride/proton transporter in the recycling endosomes of proximal tubule epithelial cells. The majori
Autor:
Hsin-Hen Kuo, Charles M. Deber, Fiona L. L. Stratford, Leigh Wellhauser, Canhui Li, Winnie Luong, Ling-Jun Huan, Christine E. Bear, Mohabir Ramjeesingh
Publikováno v:
The Biochemical journal. 398(2)
Mutations in ClC-5 (chloride channel 5), a member of the ClC family of chloride ion channels and antiporters, have been linked to Dent's disease, a renal disease associated with proteinuria. Several of the disease-causing mutations are premature stop