A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex

BACKGROUND: Epidermolysis bullosa (EB) is a rare genetic disease with widely different clinical manifestations, but the relationship between genotype and phenotype is not fully understood. In the present study, we recruited a Chinese family in which two members had been diagnosed with localized EB s...

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Detalles Bibliográficos
Autores principales: Jiang, Xin, Zhu, Yingyu, Sun, Huihui, Gu, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7875216/
https://www.ncbi.nlm.nih.gov/pubmed/33911807
http://dx.doi.org/10.5021/ad.2021.33.1.11

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7875216/
https://www.ncbi.nlm.nih.gov/pubmed/33911807
http://dx.doi.org/10.5021/ad.2021.33.1.11

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