Novel Point Mutation of EBSS Gene Coexisted with 1p36 Deletion

EBSS (epidermolysis bullosa simplex superficialis) is mainly caused by gene mutations which targeted protein as plakophilin1, desmoplakin and keratins. 1p36 gene deleted could cause typical clinical manifestations and might also affect the expression of functional genes in other regions. Here we rep...

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Detalles Bibliográficos
Autores principales: Zheng, Yue, Xu, Qingfang, Lai, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460473/
https://www.ncbi.nlm.nih.gov/pubmed/34616129
http://dx.doi.org/10.5021/ad.2021.33.5.463

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460473/
https://www.ncbi.nlm.nih.gov/pubmed/34616129
http://dx.doi.org/10.5021/ad.2021.33.5.463

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