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Open Access
Peer-reviewed
Research Article
Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa
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Ying Lin ,
Contributed equally to this work with: Ying Lin, Xue-Jun Chen
Affiliation The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No.32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Xue-Jun Chen ,
Contributed equally to this work with: Ying Lin, Xue-Jun Chen
* E-mail: xjunchen30@hotmail.com (XJC); zliny@yahoo.com (ZLY)
Affiliation Institute of Dermatology and Venereology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No. 32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Wei Liu,
Affiliation Institute of Dermatology and Venereology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No. 32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Bo Gong,
Affiliation The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No.32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Jun Xie,
Affiliation Institute of Dermatology and Venereology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No. 32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Jun-Hao Xiong,
Affiliation Institute of Dermatology and Venereology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No. 32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Jing Cheng,
Affiliation The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No.32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Xi-Ling Duan,
Affiliation Institute of Dermatology and Venereology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No. 32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Zhao-Chun Lin,
Affiliation Institute of Dermatology and Venereology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No. 32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Lu-Lin Huang,
Affiliation The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No.32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Hui-Ying Wan,
Affiliation Institute of Dermatology and Venereology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No. 32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Xiao-Qi Liu,
Affiliation The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No.32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Lin-Hong Song,
Affiliation Department of Pathology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No. 32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Zheng-Lin Yang
* E-mail: xjunchen30@hotmail.com (XJC); zliny@yahoo.com (ZLY)
Affiliation The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, No.32, Western 2nd Section, Chengdu, Sichuan, P. R. China
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Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa
- Ying Lin,
- Xue-Jun Chen,
- Wei Liu,
- Bo Gong,
- Jun Xie,
- Jun-Hao Xiong,
- Jing Cheng,
- Xi-Ling Duan,
- Zhao-Chun Lin,
- Lu-Lin Huang
- Published: November 30, 2012
- https://doi.org/10.1371/journal.pone.0050579