No abstract is available for this paper.
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
Sophie Thomas,K. Wright,S. L. Corre,A. Micalizzi,Marta Romani,A. Abhyankar,J. Saada,I. Perrault,J. Amiel,J. Litzler,E. Filhol,Nadia Elkhartoufi,M. Kwong,J. Casanova,N. Boddaert,W. Baehr,S. Lyonnet,A. Munnich,L. Burglen,N. Chassaing,Ferechté Encha-Ravazi,M. Vekemans,J. Gleeson,E. Valente,P. Jackson,I. Drummond,S. Saunier,T. Attié-Bitach
Published 2014 in Human Mutation
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PUBLICATION RECORD
- Publication year
2014
- Venue
Human Mutation
- Publication date
2014-01-01
- Fields of study
Biology, Medicine
- Identifiers
- External record
- Source metadata
Semantic Scholar, PubMed
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