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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2012
Konular:
Articles
Online Erişim: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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