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

CELL BIOCHEMISTRY AND BIOPHYSICS Volume 67 Issue 1 Page 185-187 published_at 2013-09
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Title
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
Creator
Imataka George
Sakamoto Osamu
Yamanouchi Hideo
Yoshihara Shigemi
Tajima Go
Arisaka Osamu
Source Title
CELL BIOCHEMISTRY AND BIOPHYSICS
Volume 67
Issue 1
Start Page 185
End Page 187
Journal Identifire
ISSN 1085-9195
Subjects
Methylmalonic acidemia; L-Methylmalonyl-CoA mutase; Vitamin B12 ( Other)
Language
eng
Resource Type journal article
Publisher
HUMANA PRESS INC
Date of Issued 2013-09
Access Rights metadata only access
Relation
[DOI] 10.1007/s12013-013-9532-9
[PMID] 23479330