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Mutations In CEP290, Which Encodes A Centrosomal Protein, Cause Pleiotropic Forms Of Joubert Syndrome

  June, 7 2006 12:31
your information resource in human molecular genetics
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.
E-mail: jogleeson@ucsd.edu

Enza Maria Valente
Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, viale Regina Margherita 261, 00198 Rome, Italy.
E-mail: e.valente@css-mendel.it

Abstract available online.

(C) Nature Genetics.

Posted by: Tressie Dalaya

Message posted by: Trevor M. D'Souza

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