Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome-Reference-Cited by-同舟云学术

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Published:2006-05-07 Issue:6 Volume:38 Page:623-625
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Valente Enza Maria,Silhavy Jennifer L,Brancati Francesco,Barrano Giuseppe,Krishnaswami Suguna Rani,Castori Marco,Lancaster Madeline A,Boltshauser Eugen,Boccone Loredana,Al-Gazali Lihadh,Fazzi Elisa,Signorini Sabrina,Louie Carrie M,Bellacchio Emanuele,Related Disorders Study Group International Joubert Syndrome,Bertini Enrico,Dallapiccola Bruno,Gleeson Joseph G

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1805.pdf

Reference14 articles.

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2. Boltshauser, E. & Isler, W. Neuropadiatrie 8, 57–66 (1977).

3. Maria, B.L. et al. J. Child Neurol. 12, 423–430 (1997).

4. Gleeson, J.G. et al. Am. J. Med. Genet. 125, 125–134 (2004).

5. Valente, E.M. et al. Ann. Neurol. 57, 513–519 (2005).

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