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A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

Peng Fan Hui-Qiong Tan Li-Tian Yu Ke-Fei Dou Ya-Xin Liu Xue Zhang Xian-Liang Zhou Chao-Xia Lu Xue-Qi Dong Di Zhu Kun-Qi Yang Ke-Oiang Liu Di Zhang Ying Zhang Xu Meng

中华医学杂志（英文版）2019，Vol.132Issue(2)：127-134,8.
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中华医学杂志（英文版）2019，Vol.132Issue(2)：127-134,8.DOI:10.1097/CM9.0000000000000001

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

Peng Fan 1Hui-Qiong Tan 2Li-Tian Yu 2Ke-Fei Dou 1Ya-Xin Liu 2Xue Zhang 3Xian-Liang Zhou 1Chao-Xia Lu 3Xue-Qi Dong 2Di Zhu 2Kun-Qi Yang 1Ke-Oiang Liu 3Di Zhang 2Ying Zhang 1Xu Meng1

作者信息

  • 1. Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China
  • 2. Emergency and Critical Care Center, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100037, China
  • 3. McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China
  • 折叠

摘要

关键词

Desminopathy/Cardiomyopathy/Desmin gene/Splicing mutation

Key words

Desminopathy/Cardiomyopathy/Desmin gene/Splicing mutation

引用本文复制引用

Peng Fan,Hui-Qiong Tan,Li-Tian Yu,Ke-Fei Dou,Ya-Xin Liu,Xue Zhang,Xian-Liang Zhou,Chao-Xia Lu,Xue-Qi Dong,Di Zhu,Kun-Qi Yang,Ke-Oiang Liu,Di Zhang,Ying Zhang,Xu Meng..A novel phenotype with splicing mutation identified in a Chinese family with desminopathy[J].中华医学杂志（英文版）,2019,132(2):127-134,8.

基金项目

This work was supported by grants from CAMS Innovation Fund for Medical Sciences (No.2016-I2M-1-002),the National Key Research and Development Program of China (No.2016YFC1300100),National Natural Science Foundation of China (No.81600305,No.81400187),Beijing Municipal Science and Technology Commission (No.Z151100003915078),and PUMC Graduate Innovation Fund (2018-1002-01-14). （No.2016-I2M-1-002）

中华医学杂志（英文版）

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