Open AccessExome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
Author(s) -
Michael R. Knowles,
Margaret W. Leigh,
Lawrence E. Ostrowski,
Lu Huang,
Johnny L. Carson,
Milan J. Hazucha,
Weining Yin,
Jonathan S. Berg,
Stephanie D. Davis,
Sharon Dell,
Thomas W. Ferkol,
Margaret Rosenfeld,
Scott D. Sagel,
Carlos Milla,
Kenneth N. Olivier,
Emily H. Turner,
Alexandra P. Lewis,
Michael J. Bamshad,
Deborah A. Nickerson,
Jay Shendure,
Maimoona A. Zariwala
Publication year - 2013
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/c3t0-gh30
Subject(s) - primary ciliary dyskinesia , exome sequencing , dyskinesia , mutation , medicine , exome , genetics , biology , bioinformatics , pathology , gene , disease , parkinson's disease , bronchiectasis , lung
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