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
Gespeichert in:
Verfasser / Beitragende:
[A. Zankl, L. Neumann, J. Ignatius, P. Nikkels, C. Schrander-Stumpel, G. Mortier, H. Omran, M. Wright, K. Hilbert, L. Bonafe, J. Spranger, B. Zabel, A. Superti-Furga]
Ort, Verlag, Jahr:
2005
Enthalten in:
American Journal of Medical Genetics. Part A, 133/1(2005-02), 61-7
Format:
Artikel (online)