Tanuma, Atsuhito <br/><br/>
Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease.  [electronic resource] 

 -  Nephron. Physiology  2007 
 - p87-97 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1660-2137 
<br/><br/><label>Standard No.: </label>10.1159/000111253  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adaptor Proteins, Signal Transducing--metabolism<br/>Adult<br/>Animals<br/>Apoptosis Regulatory Proteins<br/>CHO Cells<br/>Chloride Channels--genetics<br/>Cricetinae<br/>Cricetulus<br/>Family Health<br/>Humans<br/>Kidney Diseases--genetics<br/>Kidney Tubules, Proximal--metabolism<br/>Low Density Lipoprotein Receptor-Related Protein-2--metabolism<br/>Male<br/>Mutation, Missense<br/>Oocytes<br/>Pedigree<br/>Phenotype<br/>Receptors, Cell Surface--metabolism<br/>Tumor Suppressor Proteins<br/>Xenopus