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A Homozygous Mutation in Human PRICKLE1 Causes 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, EszteVolume:
83
Year:
2008
Language:
english
Pages:
10
DOI:
10.1016/j.ajhg.2008.10.003
File:
PDF, 889 KB
english, 2008