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http://purl.uniprot.org/citations/21221631 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the K+ channel gene KCNJ10 (Kir4.1) cause the autosomal recessive EAST syndrome which is characterized by epilepsy, ataxia, sensorineural deafness, and a salt-wasting tubulopathy. The renal salt-wasting pathology of EAST syndrome is caused by transport defects in the distal convoluted tubule where KCNJ10 plays a pivotal role as a basolateral K+ channel. This review on EAST syndrome outlines the molecular aspects of the physiology and pathophysiology of KCNJ10 in the distal convoluted tubule."xsd:string |
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http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/author | "Schmidt K."xsd:string |
http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/author | "Kleta R."xsd:string |
http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/author | "Zdebik A.A."xsd:string |
http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/author | "Bockenhauer D."xsd:string |
http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/author | "Warth R."xsd:string |
http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/author | "Bandulik S."xsd:string |
http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/author | "Reichold M."xsd:string |
http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/author | "Humberg E."xsd:string |
http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/name | "Pflugers Arch"xsd:string |
http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/pages | "423-435"xsd:string |
http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/title | "The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel."xsd:string |
http://purl.uniprot.org/citations/21221631 | http://purl.uniprot.org/core/volume | "461"xsd:string |
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