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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications, Ltd 2015
Assuntos:
Developmental Biology and Stem Cells
Acesso em linha: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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