首页|期刊导航|基因与疾病（英文）|Dystrophin protein and mRNA analyses for the molecular genetic diagnosis of dystrophinopathy:A novel deep intronic DMD variant

Dystrophin protein and mRNA analyses for the molecular genetic diagnosis of dystrophinopathy:A novel deep intronic DMD variant

Zhiying Xie Chang Liu Qingyue Yuan Zhihao Xie Meng Yu Yun Yuan

基因与疾病（英文）2026，Vol.13Issue(1)：14-17,4.

基因与疾病（英文）2026，Vol.13Issue(1)：14-17,4.DOI:10.1016/j.gendis.2025.101557

Dystrophin protein and mRNA analyses for the molecular genetic diagnosis of dystrophinopathy:A novel deep intronic DMD variant

Zhiying Xie ¹Chang Liu ¹Qingyue Yuan ¹Zhihao Xie ²Meng Yu ¹Yun Yuan¹

作者信息

1. Department of Neurology,Peking University First Hospital,Beijing 100034,China
2. Department of Epidemiology and Health Statistics,School of Public Health,North Sichuan Medical College,Nanchong,Sichuan 637100,China
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摘要

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Zhiying Xie,Chang Liu,Qingyue Yuan,Zhihao Xie,Meng Yu,Yun Yuan..Dystrophin protein and mRNA analyses for the molecular genetic diagnosis of dystrophinopathy:A novel deep intronic DMD variant[J].基因与疾病（英文）,2026,13(1):14-17,4.

基金项目

This work was supported by the National Natural Science Foundation of China(No.82201553)and the National High Level Hospital Clinical Research Funding(China)(High Quality Clinical Research Project of Peking University First Hospital,No.2023HQ10 （No.82201553）

Scientific Research Fund of Peking University First Hospital). （）

基因与疾病（英文）

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