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Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction
Autosomal recessive mutations in the GJA12/GJC2 gene encoding the gap junction protein connexin47 (C × 47) cause a form of Pelizaeus–Merzbacher-like disease (PMLD) with hypomyelination, nystagmus, impaired psychomotor development and progressive spasticity. We investigated the functional consequence...
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| Auteurs principaux: | , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group
2010
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2987409/ https://ncbi.nlm.nih.gov/pubmed/20442743 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.61 |
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