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人类CLP1突变改变了tRNA生物发生,影响了外周和中枢神经系统的功能

Ender Karaca1, Stefan Weitzer2, Davut Pehlivan1

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Cell
|April 29, 2014
PubMed
概括

对于RNA处理至关重要的CLP1基因的突变会导致严重的神经障碍,影响运动功能和大脑发育. 这突显了罕见的遗传变异在人类疾病中的作用.

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