Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

Heike Olbrich, Manfred Fliegauf, Julia Hoefele, Andreas Kispert, Edgar Otto, Andreas Volz, Matthias T. Wolf, Gürsel Sasmaz, Ute Trauer, Richard Reinhardt, Ralf Sudbrak, Corinne Antignac, Norbert Gretz, Gerd Walz, Bernhard Schermer, Thomas Benzing, Friedhelm Hildebrandt, Heymut Omran

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