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...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Springer Berlin Heidelberg 2012
Ábhair:
Article
Rochtain Ar Líne: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
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla