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

• Main Authors: Yueqian Yu (Author), Zhenzhen Wang (Author), Zihao Mi (Author), Lele Sun (Author), Xi'an Fu (Author), Gongqi Yu (Author), Zheng Pang (Author), Hong Liu (Author), Furen Zhang (Author)
• Format: Book
• Published: Medical Journals Sweden, 2021-07-01T00:00:00Z.
• Subjects: article
• Online Access: 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...