CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290.

Autor: Gorden, Nicholas T.1, Arts, Heleen H.2, Parisi, Melissa A.1, Coene, Karlien L.M.3, Letteboer, Stef J.F.3, van Beersum, Sylvia E.C.3, Mans, Dorus A.3, Hikida, Abigail1, Eckert, Melissa4, Knutzen, Dana1, Alswaid, Abdulrahman F.5, Özyurek, Hamit6, Dibooglu, Sel7, Otto, Edgar A.8, Yangfan Liu9, Davis, Erica E.9, Hutter, Carolyn M.2, Bammler, Theo K.10, Farm, Frederico M.10, Dorschner, Michael11
Zdroj: American Journal of Human Genetics. Nov2008, Vol. 83 Issue 5, p559-571. 13p. 1 Chart, 6 Graphs.
Databáze: Academic Search Ultimate