A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

Joubert syndrome (JS) is characterized by a distinctive cerebellar structural defect, namely the « molar tooth sign ». JS is genetically heterogeneous, involving 18 genes identified to date, which are all required for cilia biogenesis and/or function. In a consanguineous family with JS associated wi...

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主要な著者: Thomas, Sophie, Wright, Kevin J., Le Corre, Stéphanie, Micalizzi, Alessia, Romani, Marta, Abhyankar, Avinash, Saada, Julien, Perrault, Isabelle, Amiel, Jeanne, Litzler, Julie, Filhol, Emilie, Elkhartoufi, Nadia, Kwong, Mandy, Casanova, Jean-Laurent, Boddaert, Nathalie, Baehr, Wolfgang, Lyonnet, Stanislas, Munnich, Arnold, Burglen, Lydie, Chassaing, Nicolas, Encha-Ravazi, Ferechté, Vekemans, Michel, Gleeson, Joseph G., Valente, Enza Maria, Jackson, Peter K., Drummond, Iain A., Saunier, Sophie, Attié-Bitach, Tania
フォーマット: Artigo
言語:Inglês
出版事項: 2014
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Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3946372/
https://ncbi.nlm.nih.gov/pubmed/24166846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22470
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