de Vos, I.J.H.M., Tao, E.Y., Ong, S.L.M., Goggi, J.L., Scerri, T., Wilson, G.R., Low, C.G.M., Wong, A.S.W., Grussu, D., Stegmann, A.P.A., van Geel, M., Janssen, R., Amor, D.J., Bahlo, M., Dunn, N.R., Carney, T.J., Lockhart, P.J., Coull, B.J., van Steensel, M.A.M. (2018) Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype. Human molecular genetics. 27(16):2775-2788
|