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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Veröffentlicht in:Mol Biol Cell
Hauptverfasser: Kelly, John J., Esseltine, Jessica L., Shao, Qing, Jabs, Ethylin Wang, Sampson, Jacinda, Auranen, Mari, Bai, Donglin, Laird, Dale W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society for Cell Biology 2016
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4945137/
https://ncbi.nlm.nih.gov/pubmed/27226478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1091/mbc.E16-01-0062
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