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Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation

✍ Scribed by 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; Shoji Tsuji; Yoshiyuki Kuroiwa; Naomichi Matsumoto

Book ID: 113423084
Publisher: American Society of Human Genetics
Year: 2011
Tongue: English
Weight: 808 KB
Volume: 89
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2011.07.012

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