Article
Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.
Journal of dental research - 1 Jul 2013
Gasse B, Karayigit E, Mathieu E, Jung S, Garret A, Huckert M, Morkmued S, Schneider C, Vidal L, Hemmerlé J, Sire J-Y, Bloch-Zupan A
Abstract excerpt
In this article, we focus on hypomaturation autosomal-recessive-type amelogenesis imperfecta (type IIA2) and describe 2 new causal 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 codon...
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