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

por Imataka, George, Sakamoto, Osamu, Yamanouchi, Hideo, Yoshihara, Shigemi, Omura-Hasegawa, Yuki, Tajima, Go, Arisaka, Osamu
Publicado 2013