Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia
Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut0MMA, with a mutation in the MUT gene encoding the l-methylmalonyl-CoA mutase (MCM), and two were cblB MMA, with mutations in the MMAB gene required for synthesizing the deoxyad...
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Main Authors: | Siriporn Keeratichamroen, James R Ketudat Cairns, Phannee Sawangareetrakul, Somporn Liammongkolkul, Voraratt Champattanachai, Chantragan Srisomsap, Mahattana Kamolsilp, Pornswan Wasant, Jisnuson Svasti |
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Other Authors: | Chulabhorn Research Institute |
Format: | Article |
Published: |
2018
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Subjects: | |
Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/24189 |
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Institution: | Mahidol University |
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