Article
[Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2016
Deng Yukui, Tang Gen, Wen Pengqiang, Wang Guobing, Zhao Cailei, Chen Zhanling, Zhang Xiuwei, Liu Xiaohong, Cui Dong, Li Chengrong
Abstract excerpt
OBJECTIVE: To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria. METHODS: Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing. RESULTS: DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of...
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