A Homozygous Mutation in HumanPRICKLE1Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome


Alexander G. Bassuk,Robyn H. Wallace,Aimee Buhr,Andrew R. Buller,Zaid Afawi,Masahito Shimojo,Shingo Miyata,Shan Chen,Pedro Gonzalez-Alegre,Hilary L. Griesbach,Shu Wu,Marcus Nashelsky,Eszter K. Vladar,Dragana Antic,Polly J. Ferguson, et al.


The American Journal of Human Genetics




17 November 2008

Copyright © 2008, Elsevier

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