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Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
Knowles, Michael R; Leigh, Margaret W; Ostrowski, Lawrence E; Huang, Lu; Carson, Johnny L; Hazucha, Milan J; Yin, Weining; Berg, Jonathan S; Davis, Stephanie D; Dell, Sharon D; Ferkol, Thomas W; Rosenfeld, Margaret; Sagel, Scott D; Milla, Carlos E; Olivier, Kenneth N; Turner, Emily H; Lewis, Alexandra P; Bamshad, Michael J; Nickerson, Deborah A; Shendure, Jay; Zariwala, Maimoona A.
Affiliation
  • Knowles MR; Department of Medicine, UNC School of Medicine, Chapel Hill, NC 27599, USA. knowles@med.unc.edu
Am J Hum Genet ; 92(1): 99-106, 2013 Jan 10.
Article in En | MEDLINE | ID: mdl-23261302
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Kartagener Syndrome / Microtubule-Associated Proteins / Mutation Type of study: Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2013 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Kartagener Syndrome / Microtubule-Associated Proteins / Mutation Type of study: Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2013 Type: Article Affiliation country: United States