Jun 05, 2015Publications

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

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Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Celine Huber, Karsten Boldt,
Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E.C. van Beersum, Zhi Min Yap,
Stef J.F. Letteboer, S Paige Taylor, Warren Herridge, Colin A. Johnson, Peter J. Scambler,
Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M. King, UK10Kw, Philip L. Beales,
Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M. Mitchison,
George B. Witman

View Abstract on Nature Communications