Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

Familial macular degeneration is a clinically and genetically heterogeneous group of disorders characterized by progressive central vision loss. Here we show that an R373C missense mutation in the prominin 1 gene (PROM1) causes 3 forms of autosomal-dominant macular degeneration. In transgenic mice e...

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Detalhes bibliográficos
Main Authors: Yang, Zhenglin, Chen, Yali, Lillo, Concepcion, Chien, Jeremy, Yu, Zhengya, Michaelides, Michel, Klein, Martin, Howes, Kim A., Li, Yang, Kaminoh, Yuuki, Chen, Haoyu, Zhao, Chao, Chen, Yuhong, Al-Sheikh, Youssef Tawfik, Karan, Goutam, Corbeil, Denis, Escher, Pascal, Kamaya, Shin, Li, Chunmei, Johnson, Samantha, Frederick, Jeanne M., Zhao, Yu, Wang, Changguan, Cameron, D. Joshua, Huttner, Wieland B., Schorderet, Daniel F., Munier, Frances L., Moore, Anthony T., Birch, David G., Baehr, Wolfgang, Hunt, David M., Williams, David S., Zhang, Kang
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2008
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2483685/
https://ncbi.nlm.nih.gov/pubmed/18654668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI35891
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