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Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

Hua‑Xu Liu Chuan‑Qiang Pu Qiang Shi Yu‑Tong Zhang Rui Ban

中华医学杂志(英文版)2018,Vol.131Issue(4):448-453,6.
中华医学杂志(英文版)2018,Vol.131Issue(4):448-453,6.DOI:10.4103/0366-6999.225056

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

Hua‑Xu Liu 1Chuan‑Qiang Pu 1Qiang Shi 1Yu‑Tong Zhang 1Rui Ban1

作者信息

  • 1. Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853, China
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摘要

关键词

Alpha-glucosidase/DNA Mutational Analysis/Genetic Heterogeneity/Glycogen Storage Disease Type Ⅱ

Key words

Alpha-glucosidase/DNA Mutational Analysis/Genetic Heterogeneity/Glycogen Storage Disease Type Ⅱ

引用本文复制引用

Hua‑Xu Liu,Chuan‑Qiang Pu,Qiang Shi,Yu‑Tong Zhang,Rui Ban..Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease[J].中华医学杂志(英文版),2018,131(4):448-453,6.

基金项目

This work was supported by grants of National Natural Science Foundation of China (No. 81501083 and 81671236). (No. 81501083 and 81671236)

中华医学杂志(英文版)

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