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

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...

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Detalles Bibliográficos
Autores principales: YU, Yueqian, WANG, Zhenzhen, MI, Zihao, SUN, Lele, FU, Xi’an, YU, Gongqi, PANG, Zheng, LIU, Hong, ZHANG, Furen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Society for Publication of Acta Dermato-Venereologica 2021
Materias:
Investigative Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9413781/
https://www.ncbi.nlm.nih.gov/pubmed/34046686
http://dx.doi.org/10.2340/00015555-3843

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