线粒体复合体I核子单元中的衰退变异是被低估的光学缩的原因

Claudio Fiorini1, Neringa Jurkute2,3,4, Alessandra Torraco5

  • 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.

PubMed
概括

复杂I (CI) 核基因的遗传查揭示了遗传性视神经病变 (ION) 的新原因. 这项研究强调了CI基因变异在视力缩和自体逆性勒伯遗传视力神经病变 (arLHON) 中的重要作用.

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