Article
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
American journal of human genetics - 3 Oct 2013
Knowles Michael R, Ostrowski Lawrence E, Loges Niki T, Hurd Toby, Leigh Margaret W, Huang Lu, Wolf Whitney E, Carson Johnny L, Hazucha Milan J, Yin Weining, Davis Stephanie D, Dell Sharon D, Ferkol Thomas W, Sagel Scott D, Olivier Kenneth N, Jahnke Charlotte, Olbrich Heike, Werner Claudius, Raidt Johanna, Wallmeier Julia, Pennekamp Petra, Dougherty Gerard W, Hjeij Rim, Gee Heon Yung, Otto Edgar A, Halbritter Jan, Chaki Moumita, Diaz Katrina A, Braun Daniela A, Porath Jonathan D, Schueler Markus, Baktai György, Griese Matthias, Turner Emily H, Lewis Alexandra P, Bamshad Michael J, Nickerson Deborah A, Hildebrandt Friedhelm, Shendure Jay, Omran Heymut, Zariwala Maimoona A
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD-causing mutations have been identified in 20 genes, but collectively they account for only ∼65% of all PCDs. To identify mutation...
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