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 -