A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

Affiliations

• ¹ Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan, School of Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
• ² Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
• ³ Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan, Center of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
• ⁴ Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan, Department of Dermatology, Southern Philippines Medical Center, Davao, Philippines.
• ⁵ Department of Dentistry, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
• ⁶ International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan, Department of Physiology, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
• ⁷ Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
• ⁸ St. John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
• ⁹ Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, 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.