An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract

Autosomal dominant congenital cataracts have been associated with mutations of genes encoding several soluble and membrane proteins. By candidate gene screening, we identified a novel mutation in MIP (c.494 G>A) that segregates with a congenital lamellar cataract within a South Indian family and...

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Detalhes bibliográficos
Main Authors: Kumar, G. Senthil, Kyle, John W., Minogue, Peter J., Kumar, K. Dinesh, Vasantha, K., Berthoud, Viviana M., Beyer, Eric C., Sathiyavedu, Santhiya T.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3570674/
https://ncbi.nlm.nih.gov/pubmed/23116563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2012.10.010
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