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

Schmidts, M, Hou, Y, Cortés, CR et al. (25 more authors) (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications, 6. 7074.

Abstract

Metadata

Authors/Creators:
  • Schmidts, M
  • Hou, Y
  • Cortés, CR
  • Mans, DA
  • Huber, C
  • Boldt, K
  • Patel, M
  • Van Reeuwijk, J
  • Plaza, JM
  • Van Beersum, SEC
  • Yap, ZM
  • Letteboer, SJF
  • Taylor, SP
  • Herridge, W
  • Johnson, CA
  • Scambler, PJ
  • Ueffing, M
  • Kayserili, H
  • Krakow, D
  • King, SM
  • Beales, PL
  • Al-Gazali, L
  • Wicking, C
  • Cormier-Daire, V
  • Roepman, R
  • Mitchison, HM
  • Witman, GB
  • UK 10K,
Copyright, Publisher and Additional Information: © 2015 Author(s). This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material.
Dates:
  • Published: 5 June 2015
  • Accepted: 31 March 2015
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 01 Oct 2015 14:46
Last Modified: 02 Oct 2015 13:21
Published Version: http://dx.doi.org/10.1038/ncomms8074
Status: Published
Publisher: Nature Publishing Group
Identification Number: https://doi.org/10.1038/ncomms8074
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