A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
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| Description | scientific article published on January 2014 |
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author: Marta Romani Julie Litzler Ferechté Encha-Ravazi Tania Attié-Bitach Sophie Thomas Alessia Micalizzi Jeanne Amiel Isabelle Perrault Nicolas Chassaing Joseph G Gleeson Stanislas Lyonnet Arnold Munnich Avinash Abhyankar Jean-Laurent Casanova Enza Maria Valente Michel Vekemans Nathalie Boddaert Nadia Elkhartoufi Lydie Burglen Sophie Saunier Emilie Filhol |
| Publication date | January 1, 2014 |
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