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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

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Detalhes bibliográficos
Main Authors: Bowne, Sara J, Humphries, Marian M, Sullivan, Lori S, Kenna, Paul F, Tam, Lawrence CS, Kiang, Anna S, Campbell, Matthew, Weinstock, George M, Koboldt, Daniel C, Ding, Li, Fulton, Robert S, Sodergren, Erica J, Allman, Denis, Millington-Ward, Sophia, Palfi, Arpad, McKee, Alex, Blanton, Susan H, Slifer, Susan, Konidari, Ioanna, Farrar, G Jane, Daiger, Stephen P, Humphries, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3190246/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.132
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