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A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease

Li-Xi Li Hai-Lin Dong Bao-Guo Xiao Zhi-Ying Wu

中华医学杂志（英文版）2017，Vol.130Issue(15)：1779-1784,6.

中华医学杂志（英文版）2017，Vol.130Issue(15)：1779-1784,6.DOI:10.4103/0366-6999.211539

A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease

Li-Xi Li ¹Hai-Lin Dong ²Bao-Guo Xiao ¹Zhi-Ying Wu¹

作者信息

1. Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China
2. Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, The Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China
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摘要

关键词

Apoptosis/Charcot-Marie-Tooth Disease/Endoplasmic Reticulum/Missense Mutation/Peripheral Myelin Protein-22

Key words

Apoptosis/Charcot-Marie-Tooth Disease/Endoplasmic Reticulum/Missense Mutation/Peripheral Myelin Protein-22

引用本文复制引用

Li-Xi Li,Hai-Lin Dong,Bao-Guo Xiao,Zhi-Ying Wu..A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease[J].中华医学杂志（英文版）,2017,130(15):1779-1784,6.

基金项目

This study was supported by the grants from the National Natural Science Foundation of China (No.81125009),and the research foundation for distinguished scholar of Zhejiang University (No.188020-193810101/089). （No.81125009）

中华医学杂志（英文版）

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ISSN：0366-6999

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