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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

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