A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness

Gap junctions, which consist of connexins, are intercellular channels that mediate rapid intercellular communication. In the skin, connexins are involved in the regulation of epidermal growth and differentiation. GJB2 encodes connexin26, which is an important skin-expressed gap junction protein. Mut...

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Autors principals: de Zwart-Storm, Eugene A., van Geel, Michel, van Neer, Pierre A.F.A., Steijlen, Peter M., Martin, Patricia E., van Steensel, Maurice A.M.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Investigative Pathology 2008
Matèries:
Regular Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2543078/
https://ncbi.nlm.nih.gov/pubmed/18787097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2008.080049
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