Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.

Autor: Jackson, G.C., Barker, F.S., E. Jakkula, F.S., Czarny-Ratajczak, M., Mäkitie, O., Cole, W.G., Wright, M.J., Smithson, S.F., Suri, M., Rogala, P., Mortier, G.R., Baldock, C., Wallace, A., Elles, R., Ala-Kokko, L., Briggs, M.D.

Publikováno v: Journal of Medical Genetics; Jan2004, Vol. 41 Issue 1, p52-59, 8p, 1 Black and White Photograph, 2 Diagrams, 5 Charts, 1 Graph