Article
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Journal of medical genetics - 1 Jan 2014
Onoufriadis Alexandros, Shoemark Amelia, Munye Mustafa M, James Chela T, Schmidts Miriam, Patel Mitali, Rosser Elisabeth M, Bacchelli Chiara, Beales Philip L, Scambler Peter J, Hart Stephen L, Danke-Roelse Jeannette E, Sloper John J, Hull Sarah, Hogg Claire, Emes Richard D, Pals Gerard, Moore Anthony T, Chung Eddie M K, Mitchison Hannah M
Abstract excerpt
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms and obstructive lung disease, infertility and body axis laterality defects. We applied a next-generation sequencing approach to identify the gene...
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