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CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

By Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah E. Marsh, Lorena Travaglini, Stephanie L. Bielas, Maria Amorini, Dominika Zablocka, Hulya Kayserili, Lihadh Al-Gazali, Enrico Bertini, Eugen Boltshauser, Marc D'Hooghe, Elisa Fazzi, Elif Y. Fenerci, Raoul C.M. Hennekam, Andrea Kiss, Melissa M. Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stephane Romano, Carmelo D. Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Stromme, Bernard Stuart, Laszlo Sztriha, David H. Viskochil, Adnan Yuksel, Bruno Dallapiccola, Enza Maria Valente and Joseph G. Gleeson
Publisher: Elsevier BV
Year: 2007
DOI identifier: 10.1086/519026
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Provided by: MUCC (Crossref)
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