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Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner
The connexin (Cx) 50, E48K, mutation is associated with a human dominant congenital cataract; however, the underlying molecular mechanism has not been characterized. The glutamate (E) residue at position 48 is highly conserved across animal species and types of connexins. When expressed in paired Xe...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
Company of Biologists
2009
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2650834/ https://ncbi.nlm.nih.gov/pubmed/19126675 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/jcs.034124 |
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