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Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations
Nuclear receptor 2E1 (NR2E1) is expressed in human fetal and adult brains; however, its role in human brain–behavior development is unknown. Previously, we have corrected the cortical hypoplasia and behavioral abnormalities in Nr2e1(−/−) mice using a genomic clone spanning human NR2E1, which bolster...
Autores principales: | Kumar, R A, Leach, S, Bonaguro, R, Chen, J, Yokom, D W, Abrahams, B S, Seaver, L, Schwartz, C E, Dobyns, W, Brooks-Wilson, A, Simpson, E M |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2007
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2040186/ https://www.ncbi.nlm.nih.gov/pubmed/17054721 http://dx.doi.org/10.1111/j.1601-183X.2006.00277.x |
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