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Updated: May 24, 2025

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基因谱和基因型-表型相关性在DNAH5突变的原发性纤维动力障碍症:一个系统的审查

Meihua Dong1, Xu Shi1, Yawen Zhou1

  • 1Department of Allergy and Clinical Immunology, National Clinical Research Center for Respiratory Disease, State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China.

Orphanet journal of rare diseases
|March 3, 2025
PubMed
概括

与DNAH5基因变异相关的初级状动力障碍 (PCD) 呈现出各种症状. 双切断变体与PCD患者早期发病和肺功能减弱相关.

关键词:
这就是DNAH5H5的DNA.基因型表型相关性相关性主要的状动力障碍症.

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