Voraratt ChampattanachaiJames R.Ketudat CairnsVorasuk ShotelersukSiriporn KeeratichamroenPhannee SawangareetrakulChantragan SrisomsapVerachai KaewpaluekJisnuson SvastiChulabhorn Research InstituteSuranaree University of TechnologyChulalongkorn UniversityMahidol University2018-07-242018-07-242003-08-01Molecular Genetics and Metabolism. Vol.79, No.4 (2003), 300-302109671922-s2.0-0042890422https://repository.li.mahidol.ac.th/handle/20.500.14594/20706A 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.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyNovel mutations in a Thai patient with methylmalonic acidemiaArticleSCOPUS10.1016/S1096-7192(03)00106-9