Clinical Characteristics and Gene Mutation Analysis of Methylmalonic Aciduria - 易琴 吕娟娟 田凤艳 魏虹 宁琴 罗小平 (Journal of Huazhong University of Science and Technology. Medical sciences, 2011)
Keywords: aciduria; adenosylcobalamin; Asian Continental Ancestry Group - genetics; Base Sequence; Cbl protein; Child, Preschool; chromosome 6; Cofactors; Complementation; DNA; DNA Mutational Analysis; Enzymes; Exons; Female; Fumarates - urine; Gas chromatography; genomics; Genotype; Hereditary diseases; Humans; Infant; Infant, Newborn; Male; Maleates - urine; Mass spectroscopy; Medicine; Medicine & Public Health; Metabolism, Inborn Errors - genetics; Methylmalonyl-CoA Mutase - deficiency; Methylmalonyl-CoA Mutase - genetics; Molecular Sequence Data; Mutation; Point mutation; Polymorphism, Genetic; Single-nucleotide polymorphism; 丙二酸; 临床特征; 单核苷酸多态性; 基因突变分析; 基因组DNA提取; 气相色谱/质谱; 甲基丙烯酸甲酯; 遗传疾病; methylmalonic aciduria; single nucleotide polymorphism; gene mutation; MUT gene