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 mutation...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Fuying, Yao, Lei, Zhang, Xue, Gu, Yan, Yu, Hong, Yao, Zhirong, Zhang, Jia, Li, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8667171/
https://www.ncbi.nlm.nih.gov/pubmed/34912369
http://dx.doi.org/10.3389/fgene.2021.736610

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8667171/
https://www.ncbi.nlm.nih.gov/pubmed/34912369
http://dx.doi.org/10.3389/fgene.2021.736610

Ejemplares similares