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- Title
Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease.
- Authors
Schmidts, Miriam; Frank, Valeska; Eisenberger, Tobias; al Turki, Saeed; Bizet, Albane A.; Antony, Dinu; Rix, Suzanne; Decker, Christian; Bachmann, Nadine; Bald, Martin; Vinke, Tobias; Toenshoff, Burkhard; Di Donato, Natalia; Neuhann, Theresa; Hartley, Jane L.; Maher, Eamonn R.; Bogdanović, Radovan; Peco‐Antić, Amira; Mache, Christoph; Hurles, Matthew E.
- Publication
Human Mutation, 2013, Vol 34, Issue 5, p714
- ISSN
1059-7794
- Publication type
Article
- DOI
10.1002/humu.22294