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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Bibliografische gegevens
Gepubliceerd in:eLife
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: eLife Sciences Publications, Ltd 2015
Onderwerpen:
Developmental Biology and Stem Cells
Online toegang: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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