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Functional effects of Cx50 mutations associated with congenital cataracts

Mutations in connexin50 (Cx50) cause dominant cataracts in both humans and mice. The exact mechanisms by which mutations cause these variable phenotypes are poorly understood. We have examined the functional properties of gap junctions made by three Cx50 mutations, V44E, D47N, and V79L, expressed in...

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Detalhes bibliográficos
Main Authors: Rubinos, Clio, Villone, Krista, Mhaske, Pallavi V., White, Thomas W., Srinivas, Miduturu
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiological Society 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3920000/
https://ncbi.nlm.nih.gov/pubmed/24005045
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpcell.00098.2013
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