Article
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
Thorax - 1 May 2012
Knowles Michael R, Leigh Margaret W, Carson Johnny L, Davis Stephanie D, Dell Sharon D, Ferkol Thomas W, Olivier Kenneth N, Sagel Scott D, Rosenfeld Margaret, Burns Kimberlie A, Minnix Susan L, Armstrong Michael C, Lori Adriana, Hazucha Milan J, Loges Niki T, Olbrich Heike, Becker-Heck Anita, Schmidts Miriam, Werner Claudius, Omran Heymut, Zariwala Maimoona A
Abstract excerpt
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 ultrastructural defects of cilia; however, some patients have clinical manifestations of PCD and low levels of nasal...
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