PMC Links for Protein (Select 226342955) - PMC

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Items: 2

Select item 31551611.

Exome Sequencing Reveals a Homozygous SYT14 Mutation 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, Shoji Tsuji, Yoshiyuki Kuroiwa, Naomichi Matsumoto

Am J Hum Genet. 2011 Aug 12; 89(2): 320–327. doi: 10.1016/j.ajhg.2011.07.012