Identification of KIF21A Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)
Yamada, Koki, Chan, Wai-Man, Andrews, Caroline, Bosley, Thomas M, Sener, Emin C, Zwaan, Johan T, Mullaney, Paul B, Ozturk, Banu T, Akarsu, A. Nurten, Sabol, Louise J, Demer, Joseph L, Sullivan, Timothy J, Gottlob, Irene, Roggenkaemper, Peter, Mackey, David A, de Uzcategui, Clara E, Uzcategui, Nicolas, Ben-Zeev, Bruria, Traboulsi, Elias I, Magli, Adriano, de Berardinis, Teresa, Gagliardi, Vincenzo, Awasthi-Patney, Sudha, Vogel, Marlene C, Rizzo, Joseph F., III, Engle, Elizabeth C
Published in Investigative ophthalmology & visual science (01.07.2004)
Published in Investigative ophthalmology & visual science (01.07.2004)
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Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance
Tischfield, Max A., Baris, Hagit N., Wu, Chen, Rudolph, Guenther, Van Maldergem, Lionel, He, Wei, Chan, Wai-Man, Andrews, Caroline, Demer, Joseph L., Robertson, Richard L., Mackey, David A., Ruddle, Jonathan B., Bird, Thomas D., Gottlob, Irene, Pieh, Christina, Traboulsi, Elias I., Pomeroy, Scott L., Hunter, David G., Soul, Janet S., Newlin, Anna, Sabol, Louise J., Doherty, Edward J., de Uzcátegui, Clara E., de Uzcátegui, Nicolas, Collins, Mary Louise Z., Sener, Emin C., Wabbels, Bettina, Hellebrand, Heide, Meitinger, Thomas, de Berardinis, Teresa, Magli, Adriano, Schiavi, Costantino, Pastore-Trossello, Marco, Koc, Feray, Wong, Agnes M., Levin, Alex V., Geraghty, Michael T., Descartes, Maria, Flaherty, Maree, Jamieson, Robyn V., Møller, H.U., Meuthen, Ingo, Callen, David F., Kerwin, Janet, Lindsay, Susan, Meindl, Alfons, Gupta, Mohan L., Pellman, David, Engle, Elizabeth C.
Published in Cell (08.01.2010)
Published in Cell (08.01.2010)
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