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Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia

Oculodentodigital dysplasia (ODDD) is a rare genetic disease that affects the development of multiple organs in the human body. More than 70 mutations in the gap junction connexin43 (Cx43) gene, GJA1, are associated with ODDD, most of which are inherited in an autosomal dominant manner. Many patient...

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Detalles Bibliográficos
Autores principales: Kelly, John J., Esseltine, Jessica L., Shao, Qing, Jabs, Ethylin Wang, Sampson, Jacinda, Auranen, Mari, Bai, Donglin, Laird, Dale W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society for Cell Biology 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4945137/
https://www.ncbi.nlm.nih.gov/pubmed/27226478
http://dx.doi.org/10.1091/mbc.E16-01-0062