机译:ATP ATP 7B基因的假定畸形和同义突变导致威尔逊病的外显子跳过
Nanjing Key Laboratory of PediatricsChildren's Hospital of Nanjing Medical UniversityNanjing China;
Nanjing Key Laboratory of PediatricsChildren's Hospital of Nanjing Medical UniversityNanjing China;
Department of GastroenterologyChildren's Hospital of Nanjing Medical UniversityNanjing China;
Department of GastroenterologyChildren's Hospital of Nanjing Medical UniversityNanjing China;
Department of GastroenterologyChildren's Hospital of Nanjing Medical UniversityNanjing China;
Nanjing Key Laboratory of PediatricsChildren's Hospital of Nanjing Medical UniversityNanjing China;
Nanjing Key Laboratory of PediatricsChildren's Hospital of Nanjing Medical UniversityNanjing China;
Department of GastroenterologyChildren's Hospital of Nanjing Medical UniversityNanjing China;
Nanjing Key Laboratory of PediatricsChildren's Hospital of Nanjing Medical UniversityNanjing China;
ATP 7B gene; exonic splicing enhancer; exonic splicing silencer; Wilson disease;
机译:ATP ATP 7B基因的假定畸形和同义突变导致威尔逊病的外显子跳过
机译:只有冰山一角? ATP ATP 7B-EXON在威尔逊病的作用
机译:只有冰山一角? ATP ATP 7B-EXON在威尔逊病的作用
机译:通过LC-MS / MS为新生儿筛查威尔逊病的新生儿肽定量新的ATP7B肽定量
机译:ATP7B的结构和功能研究,涉及威尔逊病的铜(I)传输P型ATP酶。
机译:ATP7B变体c.1934T G p.Met645Arg通过促进外显子6跳跃而引起Wilson病
机译:早期威尔逊病引起的ATP7B外显子跳跃与内肾内变体相关
机译:鉴定小鼠p53基因的外显子VI中的突变位点。