Publication: Novel mutations in a Thai patient with methylmalonic acidemia
| dc.contributor.author | Voraratt Champattanachai | en_US |
| dc.contributor.author | James R.Ketudat Cairns | en_US |
| dc.contributor.author | Vorasuk Shotelersuk | en_US |
| dc.contributor.author | Siriporn Keeratichamroen | en_US |
| dc.contributor.author | Phannee Sawangareetrakul | en_US |
| dc.contributor.author | Chantragan Srisomsap | en_US |
| dc.contributor.author | Verachai Kaewpaluek | en_US |
| dc.contributor.author | Jisnuson Svasti | en_US |
| dc.contributor.other | Chulabhorn Research Institute | en_US |
| dc.contributor.other | Suranaree University of Technology | en_US |
| dc.contributor.other | Chulalongkorn University | en_US |
| dc.contributor.other | Mahidol University | en_US |
| dc.date.accessioned | 2018-07-24T03:19:20Z | |
| dc.date.available | 2018-07-24T03:19:20Z | |
| dc.date.issued | 2003-08-01 | en_US |
| dc.description.abstract | A Thai patient with methylmalonic acidemia (MMA) and no methylmalonyl-CoA mutase (MCM, EC 5.4.99.2) activity in leukocytes in the presence of deoxyadenosyl cobalamin (mut0) was found to be heterozygous for two novel mutations: 1048delT and 1706_1707delGGinsTA (G544X), inherited from her mother and father, respectively. The proband was also heterozygous for the polymorphism, A499T, which did not affect the activity of recombinant MCM. © 2003 Elsevier Science (USA). All rights reserved. | en_US |
| dc.identifier.citation | Molecular Genetics and Metabolism. Vol.79, No.4 (2003), 300-302 | en_US |
| dc.identifier.doi | 10.1016/S1096-7192(03)00106-9 | en_US |
| dc.identifier.issn | 10967192 | en_US |
| dc.identifier.other | 2-s2.0-0042890422 | en_US |
| dc.identifier.uri | https://repository.li.mahidol.ac.th/handle/20.500.14594/20706 | |
| dc.rights | Mahidol University | en_US |
| dc.rights.holder | SCOPUS | en_US |
| dc.source.uri | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0042890422&origin=inward | en_US |
| dc.subject | Biochemistry, Genetics and Molecular Biology | en_US |
| dc.title | Novel mutations in a Thai patient with methylmalonic acidemia | en_US |
| dc.type | Article | en_US |
| dspace.entity.type | Publication | |
| mu.datasource.scopus | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0042890422&origin=inward | en_US |
