CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 by Gorden Nicholas T, Arts Heleen H, Parisi Melissa A, Coene Karlien L M, Letteboer Stef J F, van Beersum Sylvia E C, Mans Dorus A, Hikida Abigail, Eckert Melissa, Knutzen Dana, Alswaid Abdulrahman F, Ozyurek Hamit, Dibooglu Sel, Otto Edgar A, Liu Yangfan, Davis Erica E, Hutter Carolyn M, Bammler Theo K, Farin Frederico M, Dorschner Michael, Top├žu Meral, Zackai Elaine H, Rosenthal Phillip, Owens Kelly N, Katsanis Nicholas, Vincent John B, Hildebrandt Friedhelm, Rubel Edwin W, Raible David W, Knoers Nine V A M, Chance Phillip F, Roepman Ronald, Moens Cecilia B, Glass Ian A, Doherty Dan in American journal of human genetics (2008).

[PMID: 18950740] PubMed

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