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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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dc.contributor.authorOnoufriadis, A-
dc.contributor.authorHjeij, R-
dc.contributor.authorWatson, CM-
dc.contributor.authorSlagle, CE-
dc.contributor.authorKlena, NT-
dc.contributor.authorDougherty, GW-
dc.contributor.authorKurkowiak, M-
dc.contributor.authorLoges, NT-
dc.contributor.authorDiggle, CP-
dc.contributor.authorMorante, NF-
dc.contributor.authorGabriel, GC-
dc.contributor.authorLemke, KL-
dc.contributor.authorLi, Y-
dc.contributor.authorPennekamp, P-
dc.contributor.authorMenchen, T-
dc.contributor.authorMarthin, JK-
dc.contributor.authorMans, D-
dc.contributor.authorLetteboer, SJ-
dc.contributor.authorWerner, C-
dc.contributor.authorBurgoyne, T-
dc.contributor.authorWestermann, C-
dc.contributor.authorRutman, A-
dc.contributor.authorCarr, IM-
dc.contributor.authorO'Callaghan, C-
dc.contributor.authorMoya, E-
dc.contributor.authorChung, EMK-
dc.contributor.authorSheridan, E-
dc.contributor.authorNielsen, KG-
dc.contributor.authorRoepman, R-
dc.contributor.authorBurdine, Rebecca D.-
dc.contributor.authorLo, CW-
dc.contributor.authorOmran, H-
dc.contributor.authorMitchison, H-
dc.date.accessioned2020-03-02T23:30:21Z-
dc.date.available2020-03-02T23:30:21Z-
dc.date.issued2015en_US
dc.identifier.citationOnoufriadis, 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-P30en_US
dc.identifier.issn2046-2530-
dc.identifier.urihttp://arks.princeton.edu/ark:/88435/pr1pn4g-
dc.description.abstractWe 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.en_US
dc.format.extentP30 - P30en_US
dc.language.isoen_USen_US
dc.relation.ispartofCiliaen_US
dc.rightsFinal published version. This is an open access article.en_US
dc.titleGene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151en_US
dc.typeJournal Articleen_US
dc.identifier.doidoi:10.1186/2046-2530-4-S1-P30-
pu.type.symplectichttp://www.symplectic.co.uk/publications/atom-terms/1.0/journal-articleen_US

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