PMC Links for OMIM (Select 117210) - PMC

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Items: 2

Select item 27758241.

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)_n

Nozomu Sato, Takeshi Amino, Kazuhiro Kobayashi, Shuichi Asakawa, Taro Ishiguro, Taiji Tsunemi, Makoto Takahashi, Tohru Matsuura, Kevin M. Flanigan, Sawa Iwasaki, Fumitoshi Ishino, Yuko Saito, Shigeo Murayama, Mari Yoshida, Yoshio Hashizume, Yuji Takahashi, Shoji Tsuji, Nobuyoshi Shimizu, Tatsushi Toda, Kinya Ishikawa, Hidehiro Mizusawa

Am J Hum Genet. 2009 Nov 13; 85(5): 544–557. doi: 10.1016/j.ajhg.2009.09.019

PMCID:: PMC2775824

Abstract Article PDF–1.1M

Select item 12245302.

An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains

Kinya Ishikawa, Shuta Toru, Taiji Tsunemi, Mingshun Li, Kazuhiro Kobayashi, Takanori Yokota, Takeshi Amino, Kiyoshi Owada, Hiroto Fujigasaki, Masaki Sakamoto, Hiroyuki Tomimitsu, Minoru Takashima, Jiro Kumagai, Yoshihiro Noguchi, Yoshiyuki Kawashima, Norio Ohkoshi, Gen Ishida, Manabu Gomyoda, Mari Yoshida, Yoshio Hashizume, Yuko Saito, Shigeo Murayama, Hiroshi Yamanouchi, Toshio Mizutani, Ikuko Kondo, Tatsushi Toda, Hidehiro Mizusawa

Am J Hum Genet. 2005 Aug; 77(2): 280–296. Published online 2005 Jul 6. doi: 10.1086/432518