Connexin26 mutations causing palmoplantar keratoderma and deafness interact with connexin43, modifying gap junction and hemichannel properties
Mutations in GJB2 (Cx26) cause either deafness, or deafness associated with skin diseases. That different disorders can be caused by distinct mutations within the same gene suggests that unique channel activities are influenced by each class of mutation. We have examined the functional characteristi...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731051/ |