Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

Mutations in components of the intraflagellar transport (IFT) machinery required for assembly and function of the primary cilium cause a subset of human ciliopathies characterized primarily by skeletal dysplasia. Recently, mutations in the IFT-A gene IFT144 have been described in patients with Sense...

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Main Authors: Ashe, Alyson, Butterfield, Natalie C., Town, Liam, Courtney, Andrew D., Cooper, Ashley N., Ferguson, Charles, Barry, Rachael, Olsson, Fredrik, Liem, Karel F., Parton, Robert G., Wainwright, Brandon J., Anderson, Kathryn V., Whitelaw, Emma, Wicking, Carol
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3313797/
https://ncbi.nlm.nih.gov/pubmed/22228095
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr613
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