OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y. Kroes, Stef J.F. Letteboer, Lock H. Ngu, Bartlomiej Budny, Erwin van Wijk, Nicholas T. Gorden, Malika Azhimi, Christel Thauvin-Robinet, Joris A. Veltman, Mireille Boink, Tjitske Kleefstra, Frans P.M. Cremers, Hans van Bokhoven, Arjan P.M. de Brouwer

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Biochemistry, Genetics and Molecular Biology