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Updated: Jun 16, 2025

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拉布23激活和卡特综合征中功能丧失突变的结构基础

Yat Yin Chau1, Hanbin Liang1, Wai Lam Tung1

  • 1Department of Chemistry, Hong Kong Baptist University, Kowloon Tong, Hong Kong, China.

The Journal of biological chemistry
|November 30, 2024
PubMed
概括

拉布23小GTPase突变导致卡特综合征. 对Y79del突变的结构分析显示,由于Switch II区域的扭曲,导致功能损失,从而澄清了疾病的发病性.

关键词:
卡宾特综合征是什么意思在X射线晶体学.发展发展发展发展发展.遗传病是一种遗传性疾病.拉布拉布拉布拉布是什么意思小型的GTP酶.

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