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Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

Horani, Amjad ; Druley, Todd E ; Zariwala, Maimoona A ; Patel, Anand C ; Levinson, Benjamin T ; Van Arendonk, Laura G ; Thornton, Katherine C ; Giacalone, Joe C ; Albee, Alison J ; Wilson, Kate S ; Turner, Emily H ; Nickerson, Deborah A ; Shendure, Jay ; Bayly, Philip V ; Leigh, Margaret W ; Knowles, Michael R ; Brody, Steven L ; Dutcher, Susan K ; Ferkol, Thomas W

American journal of human genetics, 05 October 2012, Vol.91(4), pp.685-93 [Rivista Peer Reviewed]

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