iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration

Best disease (BD) is an inherited degenerative disease of the human macula that results in progressive and irreversible central vision loss. It is caused by mutations in the retinal pigment epithelium (RPE) gene BESTROPHIN1 (BEST1), which, through mechanism(s) that remain unclear, lead to the accumu...

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Detalhes bibliográficos
Main Authors: Singh, Ruchira, Shen, Wei, Kuai, David, Martin, Jessica M., Guo, Xiangrong, Smith, Molly A., Perez, Enio T., Phillips, M. Joseph, Simonett, Joseph M., Wallace, Kyle A., Verhoeven, Amelia D., Capowski, Elizabeth E., Zhang, Xiaoqing, Yin, Yingnan, Halbach, Patrick J., Fishman, Gerald A., Wright, Lynda S., Pattnaik, Bikash R., Gamm, David M.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2013
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3542866/
https://ncbi.nlm.nih.gov/pubmed/23139242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds469
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