PMC Links for OMIM (Select 605361) - PMC

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Items: 2

Select item 33905381.

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

Anna Sailer, Sonja W. Scholz, J. Raphael Gibbs, Arianna Tucci, Janel O. Johnson, Nicholas W. Wood, Vincent Plagnol, Holger Hummerich, Jinhui Ding, Dena Hernandez, John Hardy, Howard J. Federoff, Bryan J. Traynor, Andrew B. Singleton, Henry Houlden

Neurology. 2012 Jul 10; 79(2): 127–131. doi: 10.1212/WNL.0b013e31825f048e

PMCID:: PMC3390538

Abstract Article PDF–457K

Select item 11803482.

Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia

Dong-Hui Chen, Zoran Brkanac, Christophe L. M. J. Verlinde, Xiao-Jian Tan, Laura Bylenok, David Nochlin, Mark Matsushita, Hillary Lipe, John Wolff, Magali Fernandez, P. J. Cimino, Thomas D. Bird, Wendy H. Raskind

Am J Hum Genet. 2003 Apr; 72(4): 839–849. Published online 2003 Mar 17. doi: 10.1086/373883