Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

Knowles, Michael R.; Ostrowski, Lawrence E.; Leigh, Margaret W.; Sears, Patrick R.; Davis, Stephanie D.; Wolf, Whitney E.; Hazucha, Milan J.; Carson, Johnny L.; Olivier, Kenneth N.; Sagel, Scott D.; Rosenfeld, Margaret; Ferkol, Thomas W.; Dell, Sharon D.; Milla, Carlos E.; Randell, Scott H.; Yin, Weining; Sannuti, Aruna; Metjian, Hilda M.; Noone, Peadar G.; Noone, Peter J.; Olson, Christina A.; Patrone, Michael V.; Dang, Hong; Lee, Hye-Seung; Hurd, Toby W.; Gee, Heon Yung; Otto, Edgar A.; Halbritter, Jan; Kohl, Stefan; Kircher, Martin; Krischer, Jeffrey; Bamshad, Michael J.; Nickerson, Deborah A.; Hildebrandt, Friedhelm; Shendure, Jay; Zariwala, Maimoona A.

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American Thoracic Society, American Journal of Respiratory and Critical Care Medicine, 6(189), p. 707-717

DOI: 10.1164/rccm.201311-2047oc

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Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

Journal article published in 2014 by Michael R. Knowles, Lawrence E. Ostrowski, Margaret W. Leigh, Patrick R. Sears, Stephanie D. Davis, Whitney E. Wolf, Milan J. Hazucha, Johnny L. Carson, Kenneth N. Olivier, Scott D. Sagel, Margaret Rosenfeld, Thomas W. Ferkol, Sharon D. Dell, Carlos E. Milla, Scott H. Randell and other authors.

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Abstract

Rationale: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia, but the genetic cause is not defined for all patients with PCD.

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Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

Abstract