Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease. [electronic resource]
Producer: 20080207Description: p87-97 p. digitalISSN:- 1660-2137
- Adaptor Proteins, Signal Transducing -- metabolism
- Adult
- Animals
- Apoptosis Regulatory Proteins
- CHO Cells
- Chloride Channels -- genetics
- Cricetinae
- Cricetulus
- Family Health
- Humans
- Kidney Diseases -- genetics
- Kidney Tubules, Proximal -- metabolism
- Low Density Lipoprotein Receptor-Related Protein-2 -- metabolism
- Male
- Mutation, Missense
- Oocytes
- Pedigree
- Phenotype
- Receptors, Cell Surface -- metabolism
- Tumor Suppressor Proteins
- Xenopus
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Publication Type: Case Reports; Journal Article
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