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Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26
Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing...
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| Huvudupphovsmän: | , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
The Korean Academy of Medical Sciences
2010
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| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2946671/ https://ncbi.nlm.nih.gov/pubmed/20890442 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.10.1539 |
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