A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy

Mutations in keratin 5 (KRT5) or KRT14 genes are responsible for the most severe form of epidermolysis bullosa simplex (EBS), which is EBS generalized severe (EBS-gen sev). To date, only four pathogenic mutations (p.Arg165Ser and p.Lys199Asn in KRT5; p.Arg125Cys and p.Arg125His in KRT14) have been r...

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Detalles Bibliográficos
Autores principales: Zhang, Jia, Yan, Ming, Liang, Jianying, Li, Ming, Yao, Zhirong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103693/
https://www.ncbi.nlm.nih.gov/pubmed/27882080
http://dx.doi.org/10.3892/etm.2016.3717

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103693/
https://www.ncbi.nlm.nih.gov/pubmed/27882080
http://dx.doi.org/10.3892/etm.2016.3717

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