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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言語	英語
著者	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 長谷川有紀 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
主題	Methylmalonic acidemia; L-Methylmalonyl-CoA mutase; Vitamin B12
掲載誌名	CELL BIOCHEMISTRY AND BIOPHYSICS
巻	67
号	1
開始ページ	185
終了ページ	187
ISSN	1085-9195
発行日	2013-09
DOI	10.1007/s12013-013-9532-9
PubMed ID	23479330
出版者	HUMANA PRESS INC
資料タイプ	学術雑誌論文
部局	医学部