| 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
|
| Language |
eng
|
| Resource Type | journal article |
| Publisher |
HUMANA PRESS INC
|
| Date of Issued | 2013-09 |
| Access Rights | metadata only access |
| Relation |
[PMID]
23479330
|
