Mice lacking renal chloride channel, CLC-5, are a model for Dent’s disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis

By Wang Sha Sha   Devuyst Olivier  

Human Molecular Genetics, Vol. 9, Iss. 20, 2000-12 ,pp. : 2937-2945

Oxford University Press

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Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

By Yoneyama T.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2861-2867

Oxford University Press

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Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease

By Devuyst O.  

Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 247-257

Oxford University Press

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ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence

By Kubisch C.  

Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1753-1760

Oxford University Press

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Identification of Functionally Important Regions of the Muscular Chloride Channel ClC-1 by Analysis of Recessive and Dominant Myotonic Mutations

By Wollnik Bernd   Kubisch Christian   Steinmeyer Klaus   Pusch Michael  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 805-811

Oxford University Press

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