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一种神经发育障碍,与RAB35中的功能丧失误解突变相关

Adriana Aguila1, Somaya Salah2, Gopinath Kulasekaran1

  • 1Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

The Journal of biological chemistry
|March 3, 2024
PubMed
概括

拉斯关联结合蛋白 (Rab35) 基因的新奇突变导致一名儿科患者出现严重的神经发育障碍. 这一发现将Rab35功能障碍与发育性疾病联系在一起,影响细胞分裂和乳毛形成.

关键词:
这是一个GTPase.拉布35 拉布35 拉布35细胞动力学 细胞动力学神经发育障碍是一种神经发育障碍.主要的乳毛是主要的乳毛.这是一种衰退性突变.

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