研究業績


Cell Biochem Biophys 67, 1, 185-187 (2013).
Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia

著者

George Imataka, Osamu Sakamoto, Hideo Yamanouchi, Shigemi Yoshihara, Yuki Omura-Hasegawa, Go Tajima, Osamu Arisaka

カテゴリ

小児神経学