Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa

Springer Science and Business Media LLC - Tập 40 Số 4 - Trang 795-800 - 2020
Yanyi Yao1, Yong Zhang2, Xiaohui Xie3, Lan Chen3, Feng Zhu4, Min Zhou5
1Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province, Wuhan, China
2Department of Cardiology, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
3Department of Dermatology and Venereology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
4Clinic Center of Human Gene Research, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
5Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China

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