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Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia
Mutations in the gene encoding connexin-43 (Cx43) cause the human development disorder known as oculodentodigital dysplasia (ODDD). In this study, ODDD-linked Cx43 N-terminal mutants formed nonfunctional gap junction–like plaques and exhibited dominant-negative effects on the coupling conductance of...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The American Society for Cell Biology
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431933/ https://www.ncbi.nlm.nih.gov/pubmed/22809623 http://dx.doi.org/10.1091/mbc.E12-02-0128 |