Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.
Mutations of the human CLCN5 gene, which encodes the CLC-5 Cl(-)/H(+) exchanger, lead to Dent's disease. Mutations result in functional defects that range from moderate reductions to complete loss of whole cell currents, although the severity of the functional defect rarely correlates with the...
| Main Authors: | , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2009
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