Clinical utility gene card for: Dent disease (Dent-1 and Dent-2)

Eur J Hum Genet. 2014 Nov;22(11):1338. doi: 10.1038/ejhg.2014.33. Epub 2014 Mar 12.

Authors

Michael Ludwig¹, Elena Levtchenko², Arend Bökenkamp³

Affiliations

¹ Institute for Clinical Chemistry and Clinical Pharmacology, Bonn University Medical Center, Bonn, Germany.
² Department of Pediatric Nephrology and Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.
³ Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chloride Channels / genetics*
Dent Disease / diagnosis
Dent Disease / genetics*
Genes, Recessive
Genetic Testing
Humans
Lecythidaceae
Mutation
Phenotype
Phosphoric Monoester Hydrolases / genetics

Substances

CLC-5 chloride channel
Chloride Channels
Phosphoric Monoester Hydrolases
OCRL protein, human