Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

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 mutations i...

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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3791252/
https://ncbi.nlm.nih.gov/pubmed/24055112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.07.025
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