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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
Assuntos:
Articles
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados