DOI:
10.1055/s-00000075
Seminars in Respiratory and Critical Care Medicine
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References
Onoufriadis A, Shoemark A, Schmidts M. et al; UK10K.
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.
Hum Mol Genet 2014;
23 (13) 3362-3374
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