The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

K. Hoornaert; C. Dewinter; I. Vereecke; F.A. Beemer; W. Courtens; A. Fryer; H. Fryssira; M. Lees; A. Muellner-Eidenboeck; D.L. Rimoin; L. Siderius; A. Superti-Furga; K. Temple; P.J. Willems; A. Zankl; C. Zweier; A. De Paepe; P. Coucke; G.R. Mortier

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

Translated title of the contribution: The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

K. Hoornaert, C. Dewinter, I. Vereecke, F.A. Beemer, W. Courtens, A. Fryer, H. Fryssira, M. Lees, A. Muellner-Eidenboeck, D.L. Rimoin, L. Siderius, A. Superti-Furga, K. Temple, P.J. Willems, A. Zankl, C. Zweier, A. De Paepe, P. Coucke, G.R. Mortier

Department of Genetics

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

Translated title of the contribution	The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
Original language	Undefined/Unknown
Pages (from-to)	406-413
Number of pages	8
Journal	Journal of Medical Genetics
Volume	43
Issue number	5
Publication status	Published - 2006

Cite this

Hoornaert, K., Dewinter, C., Vereecke, I., Beemer, F. A., Courtens, W., Fryer, A., Fryssira, H., Lees, M., Muellner-Eidenboeck, A., Rimoin, D. L., Siderius, L., Superti-Furga, A., Temple, K., Willems, P. J., Zankl, A., Zweier, C., De Paepe, A., Coucke, P., & Mortier, G. R. (2006). The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. Journal of Medical Genetics, 43(5), 406-413.

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title = "The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene",

author = "K. Hoornaert and C. Dewinter and I. Vereecke and F.A. Beemer and W. Courtens and A. Fryer and H. Fryssira and M. Lees and A. Muellner-Eidenboeck and D.L. Rimoin and L. Siderius and A. Superti-Furga and K. Temple and P.J. Willems and A. Zankl and C. Zweier and {De Paepe}, A. and P. Coucke and G.R. Mortier",

year = "2006",

language = "Undefined/Unknown",

volume = "43",

pages = "406--413",

journal = "Journal of Medical Genetics",

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Hoornaert, K, Dewinter, C, Vereecke, I, Beemer, FA, Courtens, W, Fryer, A, Fryssira, H, Lees, M, Muellner-Eidenboeck, A, Rimoin, DL, Siderius, L, Superti-Furga, A, Temple, K, Willems, PJ, Zankl, A, Zweier, C, De Paepe, A, Coucke, P & Mortier, GR 2006, 'The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene', Journal of Medical Genetics, vol. 43, no. 5, pp. 406-413.

TY - JOUR

T1 - The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

AU - Hoornaert, K.

AU - Dewinter, C.

AU - Vereecke, I.

AU - Beemer, F.A.

AU - Courtens, W.

AU - Fryer, A.

AU - Fryssira, H.

AU - Lees, M.

AU - Muellner-Eidenboeck, A.

AU - Rimoin, D.L.

AU - Siderius, L.

AU - Superti-Furga, A.

AU - Temple, K.

AU - Willems, P.J.

AU - Zankl, A.

AU - Zweier, C.

AU - De Paepe, A.

AU - Coucke, P.

AU - Mortier, G.R.

PY - 2006

Y1 - 2006

M3 - Article

SN - 0022-2593

VL - 43

SP - 406

EP - 413

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 5

ER -