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Updated: Jul 26, 2025

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阻碍ATP在KIF2A核酸结合口袋中的位置的突变会导致对酶体形,运动发育迟缓,以及智力障碍

Xiuying Zhao1,2, Tao Chen3, Binsha Fu2

  • 1Department of Pediatrics, the First Affiliated Hospital of Jinan University, Guangzhou, China.

Molecular genetics & genomic medicine
|June 18, 2023
PubMed
概括

在智力残疾和全球发育迟缓的兄弟中发现了一种新的KIF2A基因变异. 这一发现表明,特定的KIF2A变异与神经发育障碍之间存在联系,可能是由于ATP结合受阻.

关键词:
如果KIF2A细菌线的马赛克主义智力障碍 智力障碍是一种智力障碍.运动发育迟缓 运动发育迟缓一个寄生细胞形.整体外因子测序的测序

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