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Congenital heart disease genetics uncovers context-dependent organization and function of nucleoporins at cilia

Human genomics is identifying candidate genes for congenital heart disease (CHD), but discovering the underlying mechanisms remains challenging. In a patient with CHD and Heterotaxy (Htx), a disorder of left-right patterning, we previously identified a duplication in Nup188. However, a mechanism to...

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Detalhes bibliográficos
Publicado no:Dev Cell
Main Authors: del Viso, Florencia, Huang, Fang, Myers, Jordan, Chalfant, Madeleine, Zhang, Yongdeng, Reza, Nooreen, Bewersdorf, Joerg, Lusk, C. Patrick, Khokha, Mustafa K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5021619/
https://ncbi.nlm.nih.gov/pubmed/27593162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.devcel.2016.08.002
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