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

Hou, Ping; Tu, Wei-Ting; Chen, Peng Chieh; Guevara, Bryan Edgar K; Yen, Yu Fen; Huang, Hsin Yu; Lee, Julia Yu Yun; Tang, Ming; Kuo, Pao Lin; McGrath, John A.; Hsu, Chao Kai

doi:10.1684/ejd.2021.4011

European Journal of Dermatology

2021

DOI: 10.1684/ejd.2021.4011

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

Ping Hou¹,

Wei-Ting Tu²,

Peng Chieh Chen³

et al.

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

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References 8 publications

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