Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes

Epidermolysis bullosa (EB) includes a group of rare gesnodermatoses that result in blistering and erosions of the skin and mucous membranes. Genetically, pathogenic variants in around 20 genes are known to alter the structural and functional integrity of intraepidermal adhesion and dermo-epidermal a...

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Detalles Bibliográficos
Autores principales: Khan, Fehmida F., Khan, Naima, Rehman, Sakina, Ejaz, Amir, Ali, Uzma, Erfan, Muhammad, Ahmed, Zubair M., Naeem, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8143555/
https://www.ncbi.nlm.nih.gov/pubmed/33921969
http://dx.doi.org/10.3390/biom11050620

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8143555/
https://www.ncbi.nlm.nih.gov/pubmed/33921969
http://dx.doi.org/10.3390/biom11050620

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