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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Detaylı Bibliyografya
Yayımlandı:Mol Biol Cell
Asıl Yazarlar: Kelly, John J., Esseltine, Jessica L., Shao, Qing, Jabs, Ethylin Wang, Sampson, Jacinda, Auranen, Mari, Bai, Donglin, Laird, Dale W.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society for Cell Biology 2016
Konular:
Articles
Online Erişim: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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