Mutation Analysis of the MUT Gene in Chinese Patients with Methylmalonic Acidemia
碩士 === 國立陽明大學 === 遺傳學研究所 === 89 === Methylmalonic acidemia (MMA) is a common autosomal recessive disease of organic acid metabolism caused by deficiency of mitochondrial methylmalonyl CoA mutase (MCM, EC 5.4.99.2), which using adenosylcobalamine as a cofactor. MMA patient will accumulate...
Main Authors: | Shu-Fen Lee, 李淑芬 |
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Other Authors: | Kwang-Jen Hsiao |
Format: | Others |
Language: | zh-TW |
Published: |
2001
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Online Access: | http://ndltd.ncl.edu.tw/handle/05080295887285767307 |
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