Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
Onoufriadis, Alexandros, Paff, Tamara, Antony, Dinu, Shoemark, Amelia, Micha, Dimitra, Kuyt, Bertus, Schmidts, Miriam, Petridi, Stavroula, Dankert-Roelse, Jeanette E., Haarman, Eric G., Daniels, JohanVolume:
92
Langue:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2012.11.002
Date:
January, 2013
Fichier:
PDF, 1.10 MB
english, 2013