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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Detalles Bibliográficos
Autores principales: Onoufriadis, Alexandros, Shoemark, Amelia, Schmidts, Miriam, Patel, Mitali, Jimenez, Gina, Liu, Hui, Thomas, Biju, Dixon, Mellisa, 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049301/
https://www.ncbi.nlm.nih.gov/pubmed/24518672
http://dx.doi.org/10.1093/hmg/ddu046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049301/
https://www.ncbi.nlm.nih.gov/pubmed/24518672
http://dx.doi.org/10.1093/hmg/ddu046

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