Damaged Keratin Filament Network Caused by KRT5 Mutations in Localized Recessive Epidermolysis Bullosa Simplex

Epidermolysis bullosa simplex (EBS) is a blistering dermatosis that is mostly caused by dominant mutations in KRT5 and KRT14. In this study, we investigated one patient with localized recessive EBS caused by novel homozygous c.1474T > C mutations in KRT5. Biochemical experiments showed a muta...

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Autores principales: Fuying Chen, Lei Yao, Xue Zhang, Yan Gu, Hong Yu, Zhirong Yao, Jia Zhang, Ming Li
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
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Acceso en línea:https://doaj.org/article/6aa47f5ddd1c4cd1a6ba11c62dc42b34
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