NPHP NUCLEIC ACIDS AND PROTEINS

04-03-2004 дата публикации
Номер:
WO2004018702A2
Контакты:
Номер заявки: US65-02-200307
Дата заявки: 26-08-2003

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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.

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