A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

by Hiroko Shimbo, Mariko Takagi, Mitsuko Okuda, Yu Tsuyusaki, Kyoko Takano, Mizue Iai, Sumimasa Yamashita, Kei Murayama, Akira Ohtake, Yu-ichi Goto, Noriko Aida, Hitoshi Osaka
Published 2014-01-01

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.

by Atsushi Ishii, Yoshiaki Saito, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Hidee Arai, Sumimasa Yamashita, Sadami Kimura, Hirokazu Oguni, Shinichi Morishita, Shoji Tsuji, Masayuki Sasaki, Shinichi Hirose
Published 2013-01-01