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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2014
Aiheet:
Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4049301/
https://ncbi.nlm.nih.gov/pubmed/24518672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu046
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia