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...

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Библиографические подробности
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: 2013
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Article
Online-ссылка: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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