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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 ,

    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

  • Xue-Jun Chen ,

    Contributed equally to this work with: Ying Lin, Xue-Jun Chen

    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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • Zheng-Lin Yang

    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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