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Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3
Revertant mosaicism due to in vivo reversion of an inherited mutation has been described in the genetic skin disease epidermolysis bullosa (EB) for the genes KRT14 and COL17A1. Here we demonstrate the presence of multiple second-site mutations, all correcting the germline mutation LAMB3:c.628G→A;p.E...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1857245/ https://ncbi.nlm.nih.gov/pubmed/17476356 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI30465 |
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