Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Academic Article
Publication Date:
2006
Iris type:
1.1 Articolo in rivista
Keywords:
MUTATIONS; CEP290; CENTROSOMAL PROTEIN; PLEIOTROPIC FORMS; JOUBERT SYNDROME
List of contributors:
Valente, Em; Silhavy, Jl; Brancati, F; Barrano, G; Krishnaswami, Sr; Castori, M; Lancaster, Ma; Boltshauser, E; Boccone, L; Al Gazali, L; Fazzi, ELISA MARIA; Signorini, S; Louie, Cm; Bellacchio, E; International Joubert Syndrome Related Disorders Study, Group; Bertini, E; Dallapiccola, B; Gleeson, Jg
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