Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Nature Genetics2006Vol. 38(6), pp. 623–625
Citations Over TimeTop 1% of 2006 papers
Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati, Giuseppe Barrano, Suguna Rani Krishnaswami, Marco Castori, Madeline A. Lancaster, Eugen Boltshauser, Loredana Boccone, Lihadh Al‐Gazali, Elisa Fazzi, Sabrina Signorini, Carrie M Louie, Emanuele Bellacchio, International Joubert Syndrome Related Disorders Study Group, Enrico Bertini, Bruno Dallapiccola, Joseph G Gleeson
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