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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Royan Institute
2021
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| Materias: | |
| 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 |