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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
Hum Mutat. 2008 Feb;29(2):289-98. doi: 10.1002/humu.20656.
Hum Mutat. 2008.
PMID: 18022865
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium.
Knowles MR, et al.
Thorax. 2012 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18.
Thorax. 2012.
PMID: 22184204
Free PMC article.
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High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.
Nakhleh N, Francis R, Giese RA, Tian X, Li Y, Zariwala MA, Yagi H, Khalifa O, Kureshi S, Chatterjee B, Sabol SL, Swisher M, Connelly PS, Daniels MP, Srinivasan A, Kuehl K, Kravitz N, Burns K, Sami I, Omran H, Barmada M, Olivier K, Chawla KK, Leigh M, Jonas R, Knowles M, Leatherbury L, Lo CW.
Nakhleh N, et al.
Circulation. 2012 May 8;125(18):2232-42. doi: 10.1161/CIRCULATIONAHA.111.079780. Epub 2012 Apr 12.
Circulation. 2012.
PMID: 22499950
Free PMC article.
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