Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome ana Senior-Løken syndrome

Juliana Helou, Edgar A. Otto, Massimo Attanasio, Susan J. Allen, Melissa A. Parisi, Ian Glass, Boris Utsch, Seema Hashmi, Elisa Fazzi, Heymut Omran, John F. O'Toole, John A. Sayer, Friedhelm Hildebrandt

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