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Complex Interactions Between Genes Controlling Trafficking in Primary Cilia

Cilia-associated human genetic disorders are striking in the diversity of their abnormalities and their complex inheritance. Inactivation of the retrograde ciliary motor by mutations in DYNC2H1 cause skeletal dysplasias that have strongly variable expressivity. Here we define unexpected genetic rela...

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Detalhes bibliográficos
Main Authors: Ocbina, Polloneal Jymmiel R., Eggenschwiler, Jonathan T., Moskowitz, Ivan P., Anderson, Kathryn V.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3132150/
https://ncbi.nlm.nih.gov/pubmed/21552265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.832
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