Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

Orphanet Journal of Rare Diseases

Research

Yi-Huei Wu¹  Ping-Chen Hou²  Hsin-Yu Huang²  Sheau-Chiou Chao²  Wan-Rung Chen²  Wei-Ting Tu²  Julia Yu-Yun Lee²  Chao-Kai Hsu³  Ken Natsuga⁴  Hiroaki Iwata⁴  Peng-Chieh Chen⁵  H. Sunny Sun⁶  Yen-An Tang⁶  Chun-Lin Su⁷  Ming-Jer Tang⁷  Jing-Yu Wang⁸  Yi-Ting Huang⁸  John A. McGrath⁹ 

[1] Department of Biomedical Engineering, National Cheng Kung University, Tainan, Taiwan;Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, 138 Sheng-Li Road, Tainan City, Taiwan;Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, 138 Sheng-Li Road, Tainan City, Taiwan;Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan;International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan;Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan;Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan;Institute of Molecular Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan;Center for Genomic Medicine, Innovation Headquarters, National Cheng Kung University, Tainan, Taiwan;International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan;School of Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan;St. John’s Institute of Dermatology, King’s College London (Guy’s Campus), London, UK;

关键词: Epidermolysis bullosa;    Whole-exome sequencing;    RNA sequencing;   

DOI  :  10.1186/s13023-022-02605-1

 received in 2022-08-28, accepted in 2022-12-19,  发布年份 2022

来源: Springer

【 授权许可】

CC BY   
© The Author(s) 2022

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