CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders / Brancati F; Barrano G; Silhavy JL; Marsh SE; Travaglini L; Bielas SL; Amorini M; Zablocka D; Kayserili H; Al-Gazali L; Bertini E; Boltshauser E; D’Hooghe M; Fazzi E; Fenerci EY; Hennekam RCM; Kiss A; Lees MM; Marco E; Phadke SR; Rigoli L; Romano S; Salpietro SD; Sherr EH; Signorini S; Stromme P; Stuart B; Sztriha L; Viskochil DH; Yuksel A; Dallapiccola B; The International JSRD Study Group; Valente EM; Gleeson JG. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - 81:(2007), pp. 104-113. [10.1086/519026]
Titolo: | CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders. | |
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Data di pubblicazione: | 2007 | |
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Handle: | http://hdl.handle.net/11386/3949721 | |
Appare nelle tipologie: | 1.1.2 Articolo su rivista con ISSN |