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Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa
BACKGROUND: Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss‐of‐function mutation in the gene encoding ty...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7434731/ https://ncbi.nlm.nih.gov/pubmed/32537942 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1347 |
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