Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by cilia and sperm dysmotility. About 12% of cases show perturbed 9+2 microtubule cilia structure and inner dynein arm (IDA) loss, historically termed ‘radial spoke defect’. We sequenced CCDC39 and CCDC40 in 54 ‘radial s...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Antony, Dinu, Becker-Heck, Anita, Zariwala, Maimoona A, Schmidts, Miriam, Onoufriadis, Alexandros, Forouhan, Mitra, Wilson, Robert, Taylor-Cox, Theresa, Dewar, Ann, Jackson, Claire, Goggin, Patricia, Loges, Niki T, Olbrich, Heike, Jaspers, Martine, Jorissen, Mark, Leigh, Margaret W, Wolf, Whitney E, Daniels, M. Leigh Anne, Noone, Peader G, Ferkol, Thomas W, Sagel, Scott D, Rosenfeld, Margaret, Rutman, Andrew, Dixit, Abhijit, O’Callaghan, Christopher, Lucas, Jane S, Hogg, Claire, Scambler, Peter J, Emes, Richard D, Chung, Eddie MK, Shoemark, Amelia, Knowles, Michael R, Omran, Heymut, Mitchison, Hannah M
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2013
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3630464/
https://ncbi.nlm.nih.gov/pubmed/23255504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22261
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