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

Acta dermato-venereologica - 15 Jul 2021

Yu Yueqian, Wang Zhenzhen, Mi Zihao, Sun Lele, Fu Xi'an, Yu Gongqi, Pang Zheng, Liu Hong, Zhang Furen

Abstract excerpt

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 Chinese patients with epidermolysis bullosa and to clarify the relationship between clinical phenotypes and...

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PMID: 34046686
DOI: 10.2340/00015555-3843
PMCID: PMC9413781

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