Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases

• Glavni autori: Yueqian Yu (Autor), Zhenzhen Wang (Autor), Zihao Mi (Autor), Lele Sun (Autor), Xi'an Fu (Autor), Gongqi Yu (Autor), Zheng Pang (Autor), Hong Liu (Autor), Furen Zhang (Autor)
• Format: Knjiga
• Izdano: Medical Journals Sweden, 2021-07-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Epidermolysis bullosa encompasses a group of inherited blistering skin disorders. The pathogenic mutations in 10-25% of patients with epidermolysis bullosa have not been identified by Sanger sequencing. The aims of this study were to identify the pathogenic sequence alterations in a large cohort of...