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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主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2009
主題:
Article
オンライン･アクセス: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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