CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

F.S. van Dijk; I.M. Nesbitt; P.G.J. Nikkels; A. Dalton; E.M.H.F. Bongers; J.M. van de Kamp; Y. Hilhorst-Hofstee; N.S. den Hollander; A.M.A. Lachmeijer; C.L. Marcelis; G.M.B. Tan-Sindhunata; R.R. van Rijn; H. Meijers-Heijboer; J.M. Cobben; G. Pals

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

Translated title of the contribution: CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

F.S. van Dijk, I.M. Nesbitt, P.G.J. Nikkels, A. Dalton, E.M.H.F. Bongers, J.M. van de Kamp, Y. Hilhorst-Hofstee, N.S. den Hollander, A.M.A. Lachmeijer, C.L. Marcelis, G.M.B. Tan-Sindhunata, R.R. van Rijn, H. Meijers-Heijboer, J.M. Cobben, G. Pals

Department of Pathology

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

Translated title of the contribution	CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Original language	Undefined/Unknown
Pages (from-to)	1560-1569
Number of pages	10
Journal	European Journal of Human Genetics
Volume	17
Issue number	12
Publication status	Published - 2009

Cite this

van Dijk, F. S., Nesbitt, I. M., Nikkels, P. G. J., Dalton, A., Bongers, E. M. H. F., van de Kamp, J. M., Hilhorst-Hofstee, Y., den Hollander, N. S., Lachmeijer, A. M. A., Marcelis, C. L., Tan-Sindhunata, G. M. B., van Rijn, R. R., Meijers-Heijboer, H., Cobben, J. M., & Pals, G. (2009). CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. European Journal of Human Genetics, 17(12), 1560-1569.

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title = "CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.",

author = "{van Dijk}, F.S. and I.M. Nesbitt and P.G.J. Nikkels and A. Dalton and E.M.H.F. Bongers and {van de Kamp}, J.M. and Y. Hilhorst-Hofstee and {den Hollander}, N.S. and A.M.A. Lachmeijer and C.L. Marcelis and G.M.B. Tan-Sindhunata and {van Rijn}, R.R. and H. Meijers-Heijboer and J.M. Cobben and G. Pals",

year = "2009",

language = "Undefined/Unknown",

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pages = "1560--1569",

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van Dijk, FS, Nesbitt, IM, Nikkels, PGJ, Dalton, A, Bongers, EMHF, van de Kamp, JM, Hilhorst-Hofstee, Y, den Hollander, NS, Lachmeijer, AMA, Marcelis, CL, Tan-Sindhunata, GMB, van Rijn, RR, Meijers-Heijboer, H, Cobben, JM & Pals, G 2009, 'CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.', European Journal of Human Genetics, vol. 17, no. 12, pp. 1560-1569.

TY - JOUR

T1 - CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

AU - van Dijk, F.S.

AU - Nesbitt, I.M.

AU - Nikkels, P.G.J.

AU - Dalton, A.

AU - Bongers, E.M.H.F.

AU - van de Kamp, J.M.

AU - Hilhorst-Hofstee, Y.

AU - den Hollander, N.S.

AU - Lachmeijer, A.M.A.

AU - Marcelis, C.L.

AU - Tan-Sindhunata, G.M.B.

AU - van Rijn, R.R.

AU - Meijers-Heijboer, H.

AU - Cobben, J.M.

AU - Pals, G.

PY - 2009

Y1 - 2009

M3 - Article

SN - 1018-4813

VL - 17

SP - 1560

EP - 1569

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 12

ER -