Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Primary ciliary dyskinesia (PCD) is an inherited chronic respiratory obstructive disease with randomized body laterality and infertility, resulting from cilia and sperm dysmotility. PCD is characterized by clinical variability and extensive genetic heterogeneity, associated with different cilia ultr...

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Bibliographic Details
Main Authors: Onoufriadis, Alexandros, Shoemark, Amelia, Schmidts, Miriam, Patel, Mitali, Jimenez, Gina, Liu, Hui, Thomas, Biju, Dixon, Melissa, Hirst, Robert A., Rutman, Andrew, Burgoyne, Thomas, Williams, Christopher, Scully, Juliet, Bolard, Florence, Lafitte, Jean-Jacques, Beales, Philip L., Hogg, Claire, Yang, Pinfen, Chung, Eddie M.K., Emes, Richard D., O'Callaghan, Christopher, Bouvagnet, Patrice, Mitchison, Hannah M.
Format: Article
Published: Oxford University Press 2014
Online Access:https://eprints.nottingham.ac.uk/34237/

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https://eprints.nottingham.ac.uk/34237/

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