Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients

The mut-type methylmalonic aciduria (MMA, MIM 251000) is caused by a deficiency of mitochondrial methylmalonyl-CoA mutase (MCM, E.C. 5.4.99.2) activity, which results from defects in the MUT gene. To elucidate the mutation spectrum of the MUT gene in Chinese MMA patients, 13 exons of the MUT gene, i...

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Bibliografiske detaljer
Main Authors: Liu, Mei-Ying, Liu, Tze-Tze, Yang, Yang-Ling, Chang, Ying-Chen, Fan, Ya-Ling, Lee, Shu-Fen, Teng, Yu-Ting, Chiang, Szu-Hui, Niu, Dau-Ming, Lin, Shio-Jean, Chao, Mei-Chun, Lin, Shuan-Pei, Han, Lian-Shu, Qi, Yu, Hsiao, Kwang-Jen
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2012
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565679/
https://ncbi.nlm.nih.gov/pubmed/23430940
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_117
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