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, M.B. Tan-Sindhunata, R.R. Van Rijn, E.J. Meijers-Heijboer, J.M. Cobben, G. Pals

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)1560-1569
JournalEuropean Journal of Human Genetics
Volume17
Issue number12
DOIs
Publication statusPublished - 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, M.B. ; Van Rijn, R.R. ; Meijers-Heijboer, E.J. ; Cobben, J.M. ; Pals, G. / CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. In: European Journal of Human Genetics. 2009 ; Vol. 17, No. 12. pp. 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 M.B. Tan-Sindhunata and {Van Rijn}, R.R. and E.J. Meijers-Heijboer and J.M. Cobben and G. Pals",
year = "2009",
doi = "10.1038/ejhg.2009.75",
language = "Undefined/Unknown",
volume = "17",
pages = "1560--1569",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
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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, MB, Van Rijn, RR, Meijers-Heijboer, EJ, 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. https://doi.org/10.1038/ejhg.2009.75

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. / 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, M.B.; Van Rijn, R.R.; Meijers-Heijboer, E.J.; Cobben, J.M.; Pals, G.

In: European Journal of Human Genetics, Vol. 17, No. 12, 2009, p. 1560-1569.

Research output: Contribution to journalArticleAcademicpeer-review

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, M.B.

AU - Van Rijn, R.R.

AU - Meijers-Heijboer, E.J.

AU - Cobben, J.M.

AU - Pals, G.

PY - 2009

Y1 - 2009

U2 - 10.1038/ejhg.2009.75

DO - 10.1038/ejhg.2009.75

M3 - Article

VL - 17

SP - 1560

EP - 1569

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 12

ER -