Article info

Original research
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism

Authors

  • Jianhai Chen Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China Department of Ecology and Evolution, The University of Chicago, Chicago, Illinois, USA PubMed articlesGoogle scholar articles
  • Yangying Jia Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China Department of Chemistry, The University of Chicago, Chicago, Illinois, USA PubMed articlesGoogle scholar articles
  • Jie Zhong Institute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China PubMed articlesGoogle scholar articles
  • Kun Zhang Department of Radiology, Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Hongzheng Dai Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Guanglin He Institute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China PubMed articlesGoogle scholar articles
  • Fuping Li Laboratory of Molecular Translational Medicine, Center for Translational Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Clinical Research Center for Birth Defects of Sichuan Province, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Li Zeng Department of Pediatric Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Chuanzhu Fan Department of Biological Sciences, Wayne State University, Detroit, Michigan, USA PubMed articlesGoogle scholar articles
  • Huayan Xu Department of Radiology, Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Huayan Xu, Department of Radiology, Sichuan University, Chengdu, China; xuhuayan89{at}sina.com
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Citation

Chen J, Jia Y, Zhong J, et al
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism

Publication history

  • Received January 22, 2024
  • Accepted April 4, 2024
  • First published April 15, 2024.
Online issue publication 
July 19, 2024

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