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Connexin43 mutations linked to skin disease have augmented hemichannel activity
Mutations in the gene (GJA1) encoding connexin43 (Cx43) are responsible for several rare genetic disorders, including non-syndromic skin-limited diseases. Here we used two different functional expression systems to characterize three Cx43 mutations linked to palmoplantar keratoderma and congenital a...
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| Udgivet i: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Nature Publishing Group UK
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6328547/ https://ncbi.nlm.nih.gov/pubmed/30631135 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-37221-2 |
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