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1 research outputs found
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Author
Brancati F. Barrano G., Silhavy J.L., Marsh S.E., Travaglini L., Bielas S.L., Amorini M., Zablocka D., Kayserili H., Al-Gazali L., Bertini E., Boltshauser E., D'Hooghe M., Fazzi E., Fenerci E.Y., Hennekam R.C., Kiss A., Lees M.M., Marco E., Phadke S.R., Rigoli L., Romano S., Salpietro C.D., Sherr E.H., Signorini S., Stromme P., Stuart B., Sztriha L., Viskochil D.H., Yuksel A., Dallapiccola B.
International JSRD Study Group Valente E.M., Gleeson J.G.
Publication venue
'University of Chicago Press'
Publication date
01/01/2007
Field of study
No full text
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