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机译:THAP11中的突变导致钴胺素代谢和发育异常的原始错误
Univ Texas El Paso Dept Biol Sci El Paso TX 79968 USA;
Univ Colorado Sch Med Dept Pediat Sect Genet Aurora CO 80045 USA;
McGill Univ Dept Human Genet Montreal PQ H3A 1B1 Canada;
McGill Univ Dept Human Genet Montreal PQ H3A 1B1 Canada;
Univ Colorado Sch Med Dept Pediat Sect Genet Aurora CO 80045 USA;
Univ Colorado Sch Med Dept Pediat Sect Genet Aurora CO 80045 USA;
Univ Texas El Paso Dept Biol Sci El Paso TX 79968 USA;
McGill Univ Dept Human Genet Montreal PQ H3A 1B1 Canada;
McGill Univ Dept Human Genet Montreal PQ H3A 1B1 Canada;
McGill Univ Dept Human Genet Montreal PQ H3A 1B1 Canada;
McGill Univ Dept Human Genet Montreal PQ H3A 1B1 Canada;
Univ Copenhagen Rigshosp Dept Clin Genet DK-2100 Copenhagen Denmark;
Univ Colorado Sch Med Dept Pediat Sect Dev Biol Aurora CO 80045 USA;
McGill Univ Dept Human Genet Montreal PQ H3A 1B1 Canada;
Univ Colorado Sch Med Dept Pediat Sect Genet Aurora CO 80045 USA;
机译:THAP11中的突变导致钴胺素代谢和发育异常的原始错误
机译:与ZnF143中的转基钴素结合的钴胺素和突变的细胞内积聚相关的钴胺蛋白代谢的天生误差,该转录活化剂的代码
机译:钴胺素和钴胺素吸收和代谢的先天性错误
机译:B12代谢患者粗线粒体成纤维细胞中钴素蛋白结合蛋白的质谱鉴定
机译:用于筛查,诊断和治疗原始性新陈代谢的筛查,诊断和预后的生物化学检测
机译:THAP11的突变会导致先天性钴胺素代谢错误和发育异常
机译:代谢的先天性错误,重点在于引起3-甲基巴豆酰-CoA羧化酶缺乏症的MCCB特殊突变的功能分析以及细胞内维生素B12代谢的MMADHC,该基因的突变可导致三种不同的表型