Exome Sequencing Reveals a HomozygousSYT14Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation


Hiroshi Doi,Kunihiro Yoshida,Takao Yasuda,Mitsunori Fukuda,Yoko Fukuda,Hiroshi Morita,Shu-ichi Ikeda,Rumiko Kato,Yoshinori Tsurusaki,Noriko Miyake,Hirotomo Saitsu,Haruya Sakai,Satoko Miyatake,Masaaki Shiina,Nobuyuki Nukina,Shigeru Koyano, et al.


The American Journal of Human Genetics




12 August 2011

Copyright © 2011, Elsevier

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