Ludwig, Michael Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant. [electronic resource] - Kidney & blood pressure research 2003 - 176-84 p. digital Publication Type: Journal Article ISSN: 1420-4096 Standard No.: 10.1159/000071883 doi Subjects--Topical Terms: AdultAmino Acid SequenceChloride Channels--geneticsDNA--geneticsDNA Mutational AnalysisDatabases, GeneticExons--geneticsFanconi Syndrome--geneticsGenetic Diseases, X-Linked--geneticsHumansIntrons--geneticsKidney--metabolismMaleMolecular Sequence DataMutation--geneticsPedigreePhenotypeRNA, Messenger--biosynthesisSyndrome