TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous sp...

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發表在:eLife
Main Authors: Stephen, Louise A, Tawamie, Hasan, Davis, Gemma M, Tebbe, Lars, Nürnberg, Peter, Nürnberg, Gudrun, Thiele, Holger, Thoenes, Michaela, Boltshauser, Eugen, Uebe, Steffen, Rompel, Oliver, Reis, André, Ekici, Arif B, McTeir, Lynn, Fraser, Amy M, Hall, Emma A, Mill, Pleasantine, Daudet, Nicolas, Cross, Courtney, Wolfrum, Uwe, Jamra, Rami Abou, Davey, Megan G, Bolz, Hanno J
格式: Artigo
語言:Inglês
出版: eLife Sciences Publications, Ltd 2015
主題:
Developmental Biology and Stem Cells
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4641851/
https://ncbi.nlm.nih.gov/pubmed/26386247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.08077
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