Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous inherited disorder arising from dysmotility of motile cilia and sperm. This is associated with a variety of ultrastructural defects of the cilia and sperm axoneme that affect movement, leading to clinical consequences on respiratory-tra...

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Main Authors: Castleman, Victoria H., Romio, Leila, Chodhari, Rahul, Hirst, Robert A., de Castro, Sandra C.P., Parker, Keith A., Ybot-Gonzalez, Patricia, Emes, Richard D., Wilson, Stephen W., Wallis, Colin, Johnson, Colin A., Herrera, Rene J., Rutman, Andrew, Dixon, Mellisa, Shoemark, Amelia, Bush, Andrew, Hogg, Claire, Gardiner, R. Mark, Reish, Orit, Greene, Nicholas D.E., O'Callaghan, Christopher, Purton, Saul, Chung, Eddie M.K., Mitchison, Hannah M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668031/
https://ncbi.nlm.nih.gov/pubmed/19200523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.01.011
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