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Loss-of-function connexin47 mutations cause Pelizaeus-Merzbacher-like disease
Recessive mutations in GJA12/Cx47, the gene encoding the gap junction protein connexin47 (Cx47), cause Pelizaeus-Merzbacher-like disease (PMLD), which is characterized by severe CNS dysmyelination. Three missense PMLD mutations, P87S, Y269D and M283T, were expressed in communication-incompetent HeLa...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2007
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1937038/ https://ncbi.nlm.nih.gov/pubmed/17344063 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mcn.2007.01.010 |
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