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Updated: Jul 8, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在6名儿科患者中,与KIF1A基因变异相关的自体主导神经发育障碍

Jingqi Lin1, Niu Li2, Ru'en Yao3

  • 1Central Laboratory, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China. lin_j7@sjtu.edu.cn.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
|December 18, 2023
PubMed
概括

基因KIF1A变异会导致儿童的各种神经发育障碍,主要影响运动发育和步行. 严重程度因特定的KIF1A突变而异,发现了一些新的变异.

关键词:
自体主导的自体主导.一个新的突变,新的突变.在基因基因KIF1A中.运动发育延迟 运动发育延迟

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