2013 / ENGLISH

B. Gasse, E. Karayigit, E. Mathieu, S. Jung, A. Garret, M. Huckert, S. Morkmued, C. Schneider, L. Vidal, J. Hemmerlé, J.-Y. Sire, A. Bloch-Zupan.
Journal of Dental Research, 2013.

« In this article, we focus on hypomaturation autosomal-recessive-type amelogenesis imperfecta (type IIA2) and describe 2 new casual Matrix metalloproteinase 20 (MMP20) mutations validated in two unrelated families: a missense mutation p.T130I at the expected homozygous state, and a compound heterozygous mutation having the same mutation combined with a nucleotide deletion, leading to a premature stop cordon (p.N120fz*2). (…) »