Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family

In this study, we describe one Iranian patient who was diagnosed with Epidermolysis Bullosa (EB) because of mutations in three candidate genes, including 3 mutations. Two missense mutations in the LAMA3 (D3134H) and LAMB3 (Y339H) genes and also, a synonymous mutation in the ITGB4 (H422H) gene were i...

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Detalles Bibliográficos
Autores principales: Riahi, Kourosh, Ghanbari Mardasi, Farideh, Talebi, Farah, Jasemi, Farzad, Mohammadi Asl, Javad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Royan Institute 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8588817/
https://www.ncbi.nlm.nih.gov/pubmed/34837689
http://dx.doi.org/10.22074/cellj.2021.7208

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8588817/
https://www.ncbi.nlm.nih.gov/pubmed/34837689
http://dx.doi.org/10.22074/cellj.2021.7208

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