Mutations of <i>DNAH11</i> in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

R. Knowles, Michael; W. Leigh, Margaret; L. Carson, Johnny; D. Davis, Stephanie; Dell, Sharon; W. Ferkol, Thomas; N. Olivier, Kenneth; D. Sagel, Scott; Rosenfeld, Margaret; A. Burns, Kimberlie; L. Minnix, Susan; C. Armstrong, Michael; Lori, Adriana; J. Hazucha, Milan; T. Loges, Niki; Olbrich, Heike; Becker-Heck, Anita; Schmidts, Miriam; Werner, Claudius; Omran, Heymut; A. Zariwala, Maimoona

doi:10.1136/thoraxjnl-2011-200301

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Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

Published in Thorax • Dec 18, 2011

Authors:

Michael R. Knowles

Margaret W. Leigh

Johnny L. Carson

Abstract

RATIONALE: Primary ciliary dyskinesia (PCD) is an autosomal recessive, genetically heterogeneous disorder characterised by oto-sino-pulmonary disease and situs abnormalities (Kartagener syndrome) due to abnormal structure and/or function of cilia. Most patients currently recognised to have PCD have ...

Subject

Primary ciliary dyskinesia

Situs inversus

Cilium

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