Nephronophthisis

doi:10.1681/asn.2008050456

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Article

Nephronophthisis

31 Dec 2008

Abstract excerpt

Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults. Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as "ciliopathies." The theory is based on the finding that all...

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Identifiers

PMID: 19118152
DOI: 10.1681/asn.2008050456

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