Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Edgar A. Otto, Bart Loeys, Hemant Khanna, Jan Hellemans, Ralf Sudbrak, Shuling Fan, Ulla Muerb, John F. O'Toole, Juliana Helou, Massimo Attanasio, Boris Utsch, John A. Sayer, Concepcion Lillo, David Jimeno, Paul Coucke, Anne De Paepe, Richard Reinhardt, Sven Klages, Motoyuki Tsuda, Isao KawakamiTakehiro Kusakabe, Heymut Omran, Anita Imm, Melissa Tippens, Pamela A. Raymond, Jo Hill, Phil Beales, Shirley He, Andreas Kispert, Benjamin Margolis, David S. Williams, Anand Swaroop, Friedhelm Hildebrandt

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262 Scopus citations

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Medicine & Life Sciences