Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151
Author(s): Onoufriadis, A; Hjeij, R; Watson, CM; Slagle, CE; Klena, NT; et al
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http://arks.princeton.edu/ark:/88435/pr1pn4g| Abstract: | We present a stratification of the genetic basis of primary ciliary dyskinesia (PCD), based on screening >230 individuals for gene mutations using various approaches including whole exome sequencing. PCD is a genetically heterogeneous recessive ciliopathy, characterized by chronic lung disease and laterality and fertility defects arising from cilia and sperm dysmotility. |
| Publication Date: | 2015 |
| Citation: | Onoufriadis, A, Hjeij, R, Watson, CM, Slagle, CE, Klena, NT, Dougherty, GW, Kurkowiak, M, Loges, NT, Diggle, CP, Morante, NF, Gabriel, GC, Lemke, KL, Li, Y, Pennekamp, P, Menchen, T, Marthin, JK, Mans, D, Letteboer, SJ, Werner, C, Burgoyne, T, Westermann, C, Rutman, A, Carr, IM, O'Callaghan, C, Moya, E, Chung, EMK, Sheridan, E, Nielsen, KG, Roepman, R, Burdine, RD, Lo, CW, Omran, H, Mitchison, H. (2015). Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151. Cilia, 4 (Suppl 1), P30 - P30. doi:10.1186/2046-2530-4-S1-P30 |
| DOI: | doi:10.1186/2046-2530-4-S1-P30 |
| ISSN: | 2046-2530 |
| Pages: | P30 - P30 |
| Type of Material: | Journal Article |
| Journal/Proceeding Title: | Cilia |
| Version: | Final published version. This is an open access article. |
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