Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

A. Zankl; L. Neumann; J. Ignatius; P.G.J. Nikkels; C. Schrander-Stumpel; G. Mortier; H. Omran; M. Wright; K. Hilbert; L. Bonafe; J. Spranger; B. Zabel; A. Superti-Furga

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

Translated title of the contribution: Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

A. Zankl
, L. Neumann
, J. Ignatius
, P.G.J. Nikkels
, C. Schrander-Stumpel
, G. Mortier
, H. Omran
, M. Wright
, K. Hilbert
, L. Bonafe
, J. Spranger
, B. Zabel
, A. Superti-Furga

Department of Pathology

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

Translated title of the contribution	Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies
Original language	Undefined/Unknown
Pages (from-to)	61-67
Number of pages	7
Journal	American Journal of Medical Genetics. Part A
Volume	133
Issue number	1
Publication status	Published - 2005

Keywords

Econometric and Statistical Methods: General
Geneeskunde (GENK)
Geneeskunde(GENK)
Algemeen onderzoek
Pathology

Cite this

Zankl, A., Neumann, L., Ignatius, J., Nikkels, P. G. J., Schrander-Stumpel, C., Mortier, G., Omran, H., Wright, M., Hilbert, K., Bonafe, L., Spranger, J., Zabel, B., & Superti-Furga, A. (2005). Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. American Journal of Medical Genetics. Part A, 133(1), 61-67.

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title = "Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies",

keywords = "Econometric and Statistical Methods: General, Geneeskunde (GENK), Geneeskunde(GENK), Algemeen onderzoek, Pathology",

author = "A. Zankl and L. Neumann and J. Ignatius and P.G.J. Nikkels and C. Schrander-Stumpel and G. Mortier and H. Omran and M. Wright and K. Hilbert and L. Bonafe and J. Spranger and B. Zabel and A. Superti-Furga",

year = "2005",

language = "Undefined/Unknown",

volume = "133",

pages = "61--67",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "John Wiley \& Sons Inc.",

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}

Zankl, A, Neumann, L, Ignatius, J, Nikkels, PGJ, Schrander-Stumpel, C, Mortier, G, Omran, H, Wright, M, Hilbert, K, Bonafe, L, Spranger, J, Zabel, B & Superti-Furga, A 2005, 'Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies', American Journal of Medical Genetics. Part A, vol. 133, no. 1, pp. 61-67.

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. / Zankl, A.; Neumann, L.; Ignatius, J. et al.
In: American Journal of Medical Genetics. Part A, Vol. 133, No. 1, 2005, p. 61-67.

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

TY - JOUR

T1 - Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

AU - Zankl, A.

AU - Neumann, L.

AU - Ignatius, J.

AU - Nikkels, P.G.J.

AU - Schrander-Stumpel, C.

AU - Mortier, G.

AU - Omran, H.

AU - Wright, M.

AU - Hilbert, K.

AU - Bonafe, L.

AU - Spranger, J.

AU - Zabel, B.

AU - Superti-Furga, A.

PY - 2005

Y1 - 2005

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

KW - Pathology

M3 - Article

SN - 1552-4825

VL - 133

SP - 61

EP - 67

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 1

ER -