NPHP NUCLEIC ACIDS AND PROTEINS

摘要

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.