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首页 > Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics >[Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].

[Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].

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To identify the mutation of the methylmalonic aciduria (cobalamin deficiency) CblC type, with homocystinuria (MMACHC) gene in a pedigree with methylmalonic aciduria.The MMACHC gene mutation was detected using polymerase chain reaction (PCR) and DNA sequencing. The MMACHC gene of 50 healthy people was also sequenced as control.A new mutation of 146_154 del CCTTCCTGG was found in the patient and his father, and was absent in the controls.A new mutation (146_154 del CCTTCCTGG) in the MMACHC gene was detected in a Chinese family with methylmalonic aciduria.

作 者 Hui, Tang(Depardment of Clinical Experiment Center, the First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, 510632 PR China.);Hu, Hao;Shao-hui, Tang;Xuan, Chen;Fang, Liu;Qing-bing, Cha;Yue-qin, Li;Hong-jian, Li;Liang, Sun;Ming, Yu;Xin, Xiao;Tian-hong, Zhou
刊 名 Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics  2009年26卷1期 62-5页 
MeSH主题词 氨基酸代谢障碍, 先天性(Amino Acid Metabolism, Inborn Errors). 氨基酸代谢障碍, 先天性(Amino Acid Metabolism, Inborn Errors). 氨基酸序列(Amino Acid Sequence). 动物(Animals). 碱基序列(Base Sequence). 载体蛋白质类(Carrier Proteins). 载体蛋白质类(Carrier Proteins). 病例对照研究(Case-Control Studies). 儿童, 学龄前(Child, Preschool). DNA突变分析(DNA Mutational Analysis). 外显子(Exons). 父亲(Fathers). 女(雌)性(Female). 人类(Humans). 男(雄)性(Male). 甲基丙二酸(Methylmalonic Acid). 分子序列数据(Molecular Sequence Data). 突变(Mutation). 系谱(Pedigree). 聚合酶链反应(Polymerase Chain Reaction). 妊娠(Pregnancy). 蛋白质结构, 二级(Protein Structure, Secondary).
DOI号 10.3760/cma.j.issn.1003-9406.2009.01.014

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