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

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Use this link to cite this item : https://ir.lib.shimane-u.ac.jp/53767

language	eng
Author	Imataka George Department of Pediatrics, School of Medicine, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan Sakamoto Osamu Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan Yamanouchi Hideo Department of Pediatrics, Saitama Medical University, Saitama, Japan Yoshihara Shigemi Department of Pediatrics, School of Medicine, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan HASEGAWA, Yuki Tajima Go Department of Pediatrics, Graduate School of Biomedical & Health Sciences, Hiroshima University, Hiroshima, Japan Arisaka Osamu Department of Pediatrics, School of Medicine, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan
Subject	Methylmalonic acidemia; L-Methylmalonyl-CoA mutase; Vitamin B12
Journal Title	CELL BIOCHEMISTRY AND BIOPHYSICS
Volume	67
Issue	1
Start Page	185
End Page	187
ISSN	1085-9195
Published Date	2013-09
DOI	10.1007/s12013-013-9532-9
PubMed ID	23479330
Publisher	HUMANA PRESS INC
NII Type	Journal Article
OAI-PMH Set	Faculty of Medicine