Article
[Analysis of MUT gene mutations in a patient with isolated methylmalonic acidemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2015
Chen Zhanling, Zhang Xiuwei, Huang Jianrong, Wen Pengqiang, Wang Guobing, Tang Gen, Zu Ying, Chen Xiaowen, Cui Dong, Zhang Min, Qi Zhongxiang, Li Chengrong
Abstract excerpt
OBJECTIVE: To analyze the clinical features and mutation of MUT gene in a Chinese patient with isolated methylmalonic acidemia. METHODS: The clinical characteristics and laboratory tests data were collected. Genomic DNA was extracted from peripheral blood leukocytes. The 13 exons and their flanking sequences of the MUT gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing....
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