Publication: Novel mutations in a Thai patient with methylmalonic acidemia
Issued Date
2003-08-01
Resource Type
ISSN
10967192
Other identifier(s)
2-s2.0-0042890422
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Molecular Genetics and Metabolism. Vol.79, No.4 (2003), 300-302
Suggested Citation
Voraratt Champattanachai, James R.Ketudat Cairns, Vorasuk Shotelersuk, Siriporn Keeratichamroen, Phannee Sawangareetrakul, Chantragan Srisomsap, Verachai Kaewpaluek, Jisnuson Svasti Novel mutations in a Thai patient with methylmalonic acidemia. Molecular Genetics and Metabolism. Vol.79, No.4 (2003), 300-302. doi:10.1016/S1096-7192(03)00106-9 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/20706
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Novel mutations in a Thai patient with methylmalonic acidemia
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.