Inventors:
Friedhelm Hildebrandt - Ann Arbor MI, US
Edgar Otto - Ann Arbor MI, US
Julia Hoefele - Ann Arbor MI, US
Rainer Ruf - Ann Arbor MI, US
Adelheid Mueller - Ann Arbor MI, US
Karl Hiller - Ann Arbor MI, US
Matthias Wolf - Ann Arbor MI, US
Maria Schuermann - Nottuln, DE
Achim Becker - Herrenberg, DE
Assignee:
The Regents of the University of Michigan - Ann Arbor MI
International Classification:
G01N033/53, G01N033/537, G01N033/543
Abstract:
The present invention relates to Nephronophthisis, in particular to the NPHP4 protein (nephroretinin or nephrocystin-4) and nucleic acids encoding the NPHP4 protein. The present invention also provides assays for the detection of NPHP4, and assays for detecting nephroretinin and inversin polymorphisms and mutations associated with disease states.