Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior—Løken syndrome.
Helou, Juliana; Otto, Edgar A.; Attanasio, Massimo; Allen, Susan J.; Parisi, Melissa A.; Glass, Ian; Utsch, Boris; Hashmi, Seema; Fazzi, Elisa; Omran, Heymut; O'Toole, John F.; Sayer, John A.; Hildebrandt, Friedhelm; Journal of Medical Genetics, 2007, vol. 44, issue 10, p 657, ISSN 00222593. ISBN 14686244.

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