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...

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Detalles Bibliográficos
Autores principales: Smith, Andrew J., Reed, Anita A. C., Loh, Nellie Y., Thakker, Rajesh V., Lippiat, Jonathan D.
Formato: Texto
Lenguaje:English
Publicado: American Physiological Society 2009
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643861/
https://www.ncbi.nlm.nih.gov/pubmed/19019917
http://dx.doi.org/10.1152/ajprenal.90526.2008

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