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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...
Gorde:
| Argitaratua izan da: | Mol Genet Genomic Med |
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| Egile Nagusiak: | , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
John Wiley and Sons Inc.
2020
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| Gaiak: | |
| Sarrera elektronikoa: | 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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