Gene discovery for motile cilia disorders: Mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

A. Onoufriadis; R. Hjeij; C. M. Watson; C. E. Slagle; N. T. Klena; G. W. Dougherty; M. Kurkowiak; N. T. Loges; C. P. Diggle; N. F. Morante; G. C. Gabriel; K. L. Lemke; Y. Li; P. Pennekamp; T. Menchen; J. K. Marthin; D. Mans; S. J. Letteboer; C. Werner; T. Burgoyne; C. Westermann; A. Rutman; I. M. Carr; C. O'Callaghan; E. Moya; E. M K Chung; E. Sheridan; K. G. Nielsen; R. Roepman; R. D. Burdine; C. W. Lo; H. Omran; H. Mitchison

doi:10.1186/2046-2530-4-S1-P30

Gene discovery for motile cilia disorders: Mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

A. Onoufriadis, R. Hjeij, C. M. Watson, C. E. Slagle, N. T. Klena, G. W. Dougherty, M. Kurkowiak, N. T. Loges, C. P. Diggle, N. F. Morante, G. C. Gabriel, K. L. Lemke, Y. Li, P. Pennekamp, T. Menchen, J. K. Marthin, D. Mans, S. J. Letteboer, C. Werner, T. BurgoyneC. Westermann, A. Rutman, I. M. Carr, C. O'Callaghan, E. Moya, E. M K Chung, E. Sheridan, K. G. Nielsen, R. Roepman, R. D. Burdine, C. W. Lo, H. Omran, H. Mitchison^*

^*Corresponding author for this work

Medical & Molecular Genetics

Research output: Contribution to journal › Article › peer-review

Original language	English
Article number	P30
Journal	Cilia
Issue number	SUPPLEMENT 1
DOIs	https://doi.org/10.1186/2046-2530-4-S1-P30
Publication status	Published - 13 Jul 2015

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Onoufriadis, A., Hjeij, R., Watson, C. M., Slagle, C. E., Klena, N. T., Dougherty, G. W., Kurkowiak, M., Loges, N. T., Diggle, C. P., Morante, N. F., Gabriel, G. C., Lemke, K. L., Li, Y., Pennekamp, P., Menchen, T., Marthin, J. K., Mans, D., Letteboer, S. J., Werner, C., ... Mitchison, H. (2015). Gene discovery for motile cilia disorders: Mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151. Cilia, (SUPPLEMENT 1), Article P30. https://doi.org/10.1186/2046-2530-4-S1-P30

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title = "Gene discovery for motile cilia disorders: Mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151",

author = "A. Onoufriadis and R. Hjeij and Watson, {C. M.} and Slagle, {C. E.} and Klena, {N. T.} and Dougherty, {G. W.} and M. Kurkowiak and Loges, {N. T.} and Diggle, {C. P.} and Morante, {N. F.} and Gabriel, {G. C.} and Lemke, {K. L.} and Y. Li and P. Pennekamp and T. Menchen and Marthin, {J. K.} and D. Mans and Letteboer, {S. J.} and C. Werner and T. Burgoyne and C. Westermann and A. Rutman and Carr, {I. M.} and C. O'Callaghan and E. Moya and Chung, {E. M K} and E. Sheridan and Nielsen, {K. G.} and R. Roepman and Burdine, {R. D.} and Lo, {C. W.} and H. Omran and H. Mitchison",

year = "2015",

month = jul,

day = "13",

doi = "10.1186/2046-2530-4-S1-P30",

language = "English",

journal = "Cilia",

issn = "2046-2530",

publisher = "BioMed Central",

number = "SUPPLEMENT 1",

}

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, no. SUPPLEMENT 1, P30. https://doi.org/10.1186/2046-2530-4-S1-P30

TY - JOUR

T1 - Gene discovery for motile cilia disorders

T2 - Mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

AU - Onoufriadis, A.

AU - Hjeij, R.

AU - Watson, C. M.

AU - Slagle, C. E.

AU - Klena, N. T.

AU - Dougherty, G. W.

AU - Kurkowiak, M.

AU - Loges, N. T.

AU - Diggle, C. P.

AU - Morante, N. F.

AU - Gabriel, G. C.

AU - Lemke, K. L.

AU - Li, Y.

AU - Pennekamp, P.

AU - Menchen, T.

AU - Marthin, J. K.

AU - Mans, D.

AU - Letteboer, S. J.

AU - Werner, C.

AU - Burgoyne, T.

AU - Westermann, C.

AU - Rutman, A.

AU - Carr, I. M.

AU - O'Callaghan, C.

AU - Moya, E.

AU - Chung, E. M K

AU - Sheridan, E.

AU - Nielsen, K. G.

AU - Roepman, R.

AU - Burdine, R. D.

AU - Lo, C. W.

AU - Omran, H.

AU - Mitchison, H.

PY - 2015/7/13

Y1 - 2015/7/13

UR - http://www.scopus.com/inward/record.url?scp=84999864905&partnerID=8YFLogxK

U2 - 10.1186/2046-2530-4-S1-P30

DO - 10.1186/2046-2530-4-S1-P30

M3 - Article

SN - 2046-2530

JO - Cilia

JF - Cilia

IS - SUPPLEMENT 1

M1 - P30

ER -

Gene discovery for motile cilia disorders: Mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

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