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Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion

Aquaporin 0 (AQP0) performs dual functions in the lens fiber cells, as a water pore and as a cell-to-cell adhesion molecule. Mutations in AQP0 cause severe lens cataract in both humans and mice. An arginine to cysteine missense mutation at amino acid 33 (R33C) produced congenital autosomal dominant...

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Main Authors: Kumari, Sindhu S., Gandhi, Jason, Mustehsan, Mohammed H., Eren, Semih, Varadaraj, Kulandaiappan
Formato: Artigo
Idioma:Inglês
Publicado: 2013
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3864651/
https://ncbi.nlm.nih.gov/pubmed/24120416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2013.09.019
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