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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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Detalles Bibliográficos
Autores principales: Ocbina, Polloneal Jymmiel R., Eggenschwiler, Jonathan T., Moskowitz, Ivan P., Anderson, Kathryn V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132150/
https://www.ncbi.nlm.nih.gov/pubmed/21552265
http://dx.doi.org/10.1038/ng.832