In a paper authored by Enza Maria Valente, Jennifer L Silhavy, et al., and published in Nature Genetics (Vol. 38, pp. 623-625) mutations were identified in the CEP290 gene in five families with variable neurological, retinal and renal manifestations.
Joseph G Gleeson
Laboratory of Neurogenetics, Department of Neurosciences, University of California, San Diego, Leichtag 332, 9500 Gilman Drive, La Jolla, California 92093-0691, USA.
Enza Maria Valente
Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, viale Regina Margherita 261, 00198 Rome, Italy.
Abstract available online.
(C) Nature Genetics.
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